ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.28C>T (p.Pro10Ser) (rs1555570500)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568308 SCV000663836 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000568308 SCV000686440 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589109 SCV000698095 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.28C>T (p.Pro10Ser) variant involves the alteration of a conserved nucleotide. Pro10 is conserved in mammals, but is not located in a known functional domain. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was absent in 119672 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000798462 SCV000938080 uncertain significance Breast-ovarian cancer, familial 4 2018-08-08 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 10 of the RAD51D protein (p.Pro10Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 480536). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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