NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val) AND Neuronal ceroid lipofuscinosis 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 9, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001916787.4

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val)]

NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val)

Gene:

MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.2

Genomic location:

Preferred name:

NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val)

HGVS:

NC_000004.12:g.127921601G>C
NG_008657.1:g.49384C>G
NM_001363520.3:c.1072C>G
NM_001363521.3:c.958C>G
NM_001371590.2:c.1138C>G
NM_001371591.2:c.1273C>G
NM_001371592.2:c.1279C>G
NM_001371593.2:c.1159C>G
NM_001371594.2:c.1126C>G
NM_001371595.1:c.991C>G
NM_001371596.2:c.1273C>GMANE SELECT
NM_001410765.1:c.823C>G
NM_001410766.1:c.*158C>G
NM_152778.4:c.1273C>G
NP_001350449.1:p.Leu358Val
NP_001350449.1:p.Leu358Val
NP_001350450.1:p.Leu320Val
NP_001350450.1:p.Leu320Val
NP_001358519.1:p.Leu380Val
NP_001358519.1:p.Leu380Val
NP_001358520.1:p.Leu425Val
NP_001358520.1:p.Leu425Val
NP_001358521.1:p.Leu427Val
NP_001358521.1:p.Leu427Val
NP_001358522.1:p.Leu387Val
NP_001358522.1:p.Leu387Val
NP_001358523.1:p.Leu376Val
NP_001358523.1:p.Leu376Val
NP_001358524.1:p.Leu331Val
NP_001358525.1:p.Leu425Val
NP_001397694.1:p.Leu275Val
NP_689991.1:p.Leu425Val
LRG_833t1:c.1273C>G
LRG_833t2:c.1273C>G
LRG_833:g.49384C>G
LRG_833p1:p.Leu425Val
LRG_833p2:p.Leu425Val
NC_000004.11:g.128842756G>C
NM_001363520.2:c.1072C>G
NM_001363521.2:c.958C>G
NM_001371590.1:c.1138C>G
NM_001371591.1:c.1273C>G
NM_001371592.1:c.1279C>G
NM_001371593.1:c.1159C>G
NM_001371594.1:c.1126C>G

Protein change:

L275V

Links:

dbSNP: rs1334064077

NCBI 1000 Genomes Browser:

rs1334064077

Molecular consequence:

NM_001363520.3:c.1072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363521.3:c.958C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371590.2:c.1138C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.1273C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.1279C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.1159C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371594.2:c.1126C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371595.1:c.991C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371596.2:c.1273C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001410765.1:c.823C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.1273C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 7 (CLN7)
Synonyms:: MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:: MONDO: MONDO:0012588; MedGen: C1838571; Orphanet: 168491; Orphanet: 228366; OMIM: 610951

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002192477	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002192477

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 9, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002192477.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 425 of the MFSD8 protein (p.Leu425Val). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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