ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val)

gnomAD frequency: 0.00001  dbSNP: rs529920914
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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 RCV002049143 SCV002311407 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 29 of the EIF2AK3 protein (p.Ala29Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. While this variant is present in population databases (rs529920914), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with EIF2AK3-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: "Tolerated"; PolyPhen-2: "Not Available"; 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.
Fulgent Genetics, Fulgent Genetics RCV002493986 SCV002797169 uncertain significance Wolcott-Rallison dysplasia 2021-07-23 criteria provided, single submitter clinical testing
3billion RCV002493986 SCV005328996 likely benign Wolcott-Rallison dysplasia 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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