ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1187G>A (p.Arg396His)

dbSNP: rs770837281
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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 RCV002004301 SCV002293088 uncertain significance Lethal multiple pterygium syndrome 2022-06-27 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt CHRND protein function. This variant has not been reported in the literature in individuals affected with CHRND-related conditions. This variant is present in population databases (rs770837281, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 396 of the CHRND protein (p.Arg396His).

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