ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1187T>G (p.Val396Gly)

dbSNP: rs1659806206
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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 RCV002571189 SCV002253663 uncertain significance not provided 2020-11-05 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 expected to disrupt FH protein function. This variant has not been reported in the literature in individuals with FH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 396 of the FH protein (p.Val396Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine.

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