ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.257T>C (p.Ile86Thr)

dbSNP: rs1312421615
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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 RCV001953994 SCV002244058 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 86 of the RAD51D protein (p.Ile86Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with RAD51D-related conditions.
Color Diagnostics, LLC DBA Color Health RCV003585169 SCV004357176 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-17 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with threonine at codon 86 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251460 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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