ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)

gnomAD frequency: 0.00001  dbSNP: rs772538065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872744 SCV002141388 uncertain significance Hypoplastic left heart syndrome 2022-09-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs772538065, gnomAD 0.003%). 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1372110). This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 82 of the HAND1 protein (p.Pro82Leu).

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