ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.2255G>A (p.Ser752Asn)

gnomAD frequency: 0.00002  dbSNP: rs376905155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001517 SCV002273727 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 752 of the EIF2AK3 protein (p.Ser752Asn). This variant is present in population databases (rs376905155, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with EIF2AK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1489504). 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. 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 RCV005032067 SCV005661160 uncertain significance Wolcott-Rallison dysplasia 2024-03-14 criteria provided, single submitter clinical testing

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