ClinVar Miner

Submissions for variant NM_000143.4(FH):c.551G>C (p.Ser184Thr)

dbSNP: rs750316531
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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 RCV002553274 SCV001216235 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 184 of the FH protein (p.Ser184Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs750316531, ExAC 0.006%). This variant has not been reported in the literature in individuals with FH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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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