ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.668-4_670delinsCC

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004440087 SCV004930372 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-04 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Ambry Genetics RCV004440088 SCV005019438 pathogenic Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing The c.668-4_670delGCAGGCTinsCC pathogenic mutation, located between intron 7 and coding exon 8 of the RAD51D gene, results from a deletion of GCAGGCT and insertion of CC at nucleotide positions 668-4 to 670. This results in a stop codon at codon 230 (p.Glu223Valfs*7). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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