ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)

dbSNP: rs775191661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804547 SCV000944463 uncertain significance Developmental and epileptic encephalopathy, 36 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 318 of the ALG13 protein (p.Arg318Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. ClinVar contains an entry for this variant (Variation ID: 649577). 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: "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.
Ambry Genetics RCV002370136 SCV002686777 uncertain significance Inborn genetic diseases 2018-12-22 criteria provided, single submitter clinical testing The p.R318C variant (also known as c.952C>T), located in coding exon 8 of the ALG13 gene, results from a C to T substitution at nucleotide position 952. The arginine at codon 318 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000804547 SCV002794401 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-17 criteria provided, single submitter clinical testing

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