ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.314T>C (p.Ile105Thr)

dbSNP: rs368838910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464506 SCV000551372 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2016-10-12 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant is present in population databases (rs368838910, ExAC 0.001%) but has not been reported in the literature in individuals with a RAD51D-related disease. This sequence change replaces isoleucine with threonine at codon 105 of the RAD51D protein (p.Ile105Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Ambry Genetics RCV001018816 SCV001180095 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-22 criteria provided, single submitter clinical testing The p.I105T variant (also known as c.314T>C), located in coding exon 4 of the RAD51D gene, results from a T to C substitution at nucleotide position 314. The isoleucine at codon 105 is replaced by threonine, 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 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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