ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.551A>T (p.His184Leu)

gnomAD frequency: 0.00001  dbSNP: rs1246794989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001323212 SCV001514119 uncertain significance Hypoplastic left heart syndrome 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HAND1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 184 of the HAND1 protein (p.His184Leu). ClinVar contains an entry for this variant (Variation ID: 1023202). 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.

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