ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.406G>A (p.Asp136Asn)

dbSNP: rs1420010820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041519 SCV001205140 uncertain significance Idiopathic generalized epilepsy 2022-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 839702). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 136 of the GABRD protein (p.Asp136Asn).

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