ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys)

gnomAD frequency: 0.00001  dbSNP: rs369633399
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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 RCV001945186 SCV002179517 uncertain significance not provided 2024-12-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 746 of the A2ML1 protein (p.Asn746Lys). This variant is present in population databases (rs369633399, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with A2ML1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1414080). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317547 SCV004020386 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing

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