NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) AND Neuronal ceroid lipofuscinosis 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 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:: RCV001219362.5

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)]

NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)

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.1006G>A (p.Glu336Lys)

HGVS:

NC_000004.12:g.127921956C>T
NG_008657.1:g.49029G>A
NM_001363520.3:c.805G>A
NM_001363521.3:c.691G>A
NM_001371590.2:c.871G>A
NM_001371591.2:c.1006G>A
NM_001371592.2:c.1012G>A
NM_001371593.2:c.892G>A
NM_001371594.2:c.859G>A
NM_001371595.1:c.724G>A
NM_001371596.2:c.1006G>AMANE SELECT
NM_001410765.1:c.556G>A
NM_152778.4:c.1006G>A
NP_001350449.1:p.Glu269Lys
NP_001350449.1:p.Glu269Lys
NP_001350450.1:p.Glu231Lys
NP_001350450.1:p.Glu231Lys
NP_001358519.1:p.Glu291Lys
NP_001358519.1:p.Glu291Lys
NP_001358520.1:p.Glu336Lys
NP_001358520.1:p.Glu336Lys
NP_001358521.1:p.Glu338Lys
NP_001358521.1:p.Glu338Lys
NP_001358522.1:p.Glu298Lys
NP_001358522.1:p.Glu298Lys
NP_001358523.1:p.Glu287Lys
NP_001358523.1:p.Glu287Lys
NP_001358524.1:p.Glu242Lys
NP_001358525.1:p.Glu336Lys
NP_001397694.1:p.Glu186Lys
NP_689991.1:p.Glu336Lys
LRG_833t1:c.1006G>A
LRG_833t2:c.1006G>A
LRG_833:g.49029G>A
LRG_833p1:p.Glu336Lys
LRG_833p2:p.Glu336Lys
NC_000004.11:g.128843111C>T
NM_001363520.2:c.805G>A
NM_001363521.2:c.691G>A
NM_001371590.1:c.871G>A
NM_001371591.1:c.1006G>A
NM_001371592.1:c.1012G>A
NM_001371593.1:c.892G>A
NM_001371594.1:c.859G>A
NM_152778.2:c.1006G>A

Protein change:

E186K

Links:

dbSNP: rs150418024

NCBI 1000 Genomes Browser:

rs150418024

Molecular consequence:

NM_001363520.3:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363521.3:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371590.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371591.2:c.1006G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371592.2:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371593.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371594.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371595.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371596.2:c.1006G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410765.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152778.4:c.1006G>A - 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
SCV001391297	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 19, 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

SCV001391297

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 19, 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, SCV001391297.2

#	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 glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 336 of the MFSD8 protein (p.Glu336Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 284230). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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Relating variation to medicine