ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.257A>T (p.Glu86Val)

gnomAD frequency: 0.00001  dbSNP: rs1177737621
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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 RCV000633472 SCV000754701 uncertain significance Hypoplastic left heart syndrome 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 86 of the HAND1 protein (p.Glu86Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HAND1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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