ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.472C>T (p.Arg158Cys)

dbSNP: rs2469514264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002651608 SCV003524922 pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 158 of the IHH protein (p.Arg158Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant brachydactyly (PMID: 19464397). It has also been observed to segregate with disease in related individuals. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IHH protein function. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002651608 SCV003813346 uncertain significance not provided 2019-04-12 criteria provided, single submitter clinical testing

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