Submissions for variant NM_002878.4(RAD51D):c.304G>A (p.Val102Met)

dbSNP: rs2142436933

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001804335	SCV002052364	uncertain significance	Hereditary cancer-predisposing syndrome	2021-01-20	criteria provided, single submitter	clinical testing	This missense variant replaces valine with methionine at codon 102 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 not been identified 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.
Ambry Genetics	RCV001804335	SCV005019433	uncertain significance	Hereditary cancer-predisposing syndrome	2023-11-02	criteria provided, single submitter	clinical testing	The p.V102M variant (also known as c.304G>A), located in coding exon 4 of the RAD51D gene, results from a G to A substitution at nucleotide position 304. The valine at codon 102 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.