ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.767A>C (p.Asp256Ala) (rs371350110)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236920 SCV000293793 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.767A>C at the cDNA level, p.Asp256Ala (D256A) at the protein level, and results in the change of an Aspartic Acid to an Alanine (GAC>GCC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Asp256Ala was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Aspartic Acid and Alanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. RAD51D Asp256Ala occurs at a position that is conserved in mammals and is located in the ATPase domain (Kim 2011). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether RAD51D Asp256Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001026702 SCV001189133 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-03 criteria provided, single submitter clinical testing Insufficient evidence

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