ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.283C>T (p.His95Tyr)

dbSNP: rs1317173760
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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 RCV001016747 SCV001177739 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-16 criteria provided, single submitter clinical testing The p.H95Y variant (also known as c.283C>T), located in coding exon 2 of the RAD51C gene, results from a C to T substitution at nucleotide position 283. The histidine at codon 95 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001044412 SCV001208209 uncertain significance Fanconi anemia complementation group O 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 95 of the RAD51C protein (p.His95Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 821879). 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 RAD51C protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV003467631 SCV004207983 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-06-30 criteria provided, single submitter clinical testing

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