ClinVar Miner

Submissions for variant NM_000143.4(FH):c.59C>T (p.Ala20Val)

dbSNP: rs1573889953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024776 SCV001186855 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-14 criteria provided, single submitter clinical testing The p.A20V variant (also known as c.59C>T), located in coding exon 1 of the FH gene, results from a C to T substitution at nucleotide position 59. The alanine at codon 20 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002551905 SCV003315611 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FH-related conditions. ClinVar contains an entry for this variant (Variation ID: 826108). 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 FH protein function. 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 20 of the FH protein (p.Ala20Val).
Natera, Inc. RCV001832358 SCV002085905 uncertain significance Fumarase deficiency 2021-04-23 no assertion criteria provided clinical testing

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