ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)

gnomAD frequency: 0.00001  dbSNP: rs772843786
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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 RCV000813025 SCV000953358 uncertain significance Hypoplastic left heart syndrome 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 63 of the HAND1 protein (p.Pro63Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with HAND1-related disease. This variant is present in population databases (rs772843786, ExAC 0.007%).

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