ClinVar Miner

Submissions for variant NM_000143.4(FH):c.959C>T (p.Ala320Val)

gnomAD frequency: 0.00001  dbSNP: rs202147731
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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 RCV001019524 SCV001180894 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The p.A320V variant (also known as c.959C>T), located in coding exon 7 of the FH gene, results from a C to T substitution at nucleotide position 959. The alanine at codon 320 is replaced by valine, an amino acid with similar 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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