ClinVar Miner

Submissions for variant NM_000143.4(FH):c.508G>T (p.Gly170Cys)

dbSNP: rs1573885366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023520 SCV001185418 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-27 criteria provided, single submitter clinical testing The p.G170C variant (also known as c.508G>T), located in coding exon 4 of the FH gene, results from a G to T substitution at nucleotide position 508. The glycine at codon 170 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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