ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.152A>T (p.Asp51Val)

gnomAD frequency: 0.00001  dbSNP: rs1365842411
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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 RCV001920079 SCV002157658 uncertain significance Hypoplastic left heart syndrome 2023-05-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1396928). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 51 of the HAND1 protein (p.Asp51Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HAND1-related conditions.

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