NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val) AND Developmental and epileptic encephalopathy, 25

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 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:: RCV003023074.3

Allele description [Variation Report for NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)]

NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)

Gene:

SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)

HGVS:

NC_000017.11:g.6703922G>A
NG_034220.1:g.14500C>T
NM_001143838.3:c.503C>T
NM_001284509.2:c.452C>T
NM_001284510.2:c.374C>T
NM_177550.5:c.503C>TMANE SELECT
NP_001137310.1:p.Ala168Val
NP_001271438.1:p.Ala151Val
NP_001271439.1:p.Ala125Val
NP_808218.1:p.Ala168Val
NP_808218.1:p.Ala168Val
LRG_1020t1:c.503C>T
LRG_1020:g.14500C>T
LRG_1020p1:p.Ala168Val
NC_000017.10:g.6607241G>A
NM_177550.4:c.503C>T

Protein change:

A125V

Molecular consequence:

NM_001143838.3:c.503C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001284509.2:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001284510.2:c.374C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_177550.5:c.503C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 25 (DEE25)
Synonyms:: Epileptic encephalopathy, early infantile, 25; Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
Identifiers:: MONDO: MONDO:0014392; MedGen: C4014621; Orphanet: 442835; OMIM: 615905

Recent activity

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rap1 GTPase-GDP dissociation stimulator 1 isoform b [Mus musculus]
rap1 GTPase-GDP dissociation stimulator 1 isoform b [Mus musculus]
gi|100818462|ref|NP_663519.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003320480	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 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

SCV003320480

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 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, SCV003320480.2

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 168 of the SLC13A5 protein (p.Ala168Val).

#	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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