ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.408G>A (p.Met136Ile) (rs587780836)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215144 SCV000278307 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000215144 SCV000906462 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-29 criteria provided, single submitter clinical testing
Invitae RCV000123372 SCV000166695 uncertain significance Fanconi anemia, complementation group O 2018-07-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 136 of the RAD51C protein (p.Met136Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs587780836, ExAC 0.001%). This variant has been observed in an individual affected with pancreatic cancer (PMID: 28767289). ClinVar contains an entry for this variant (Variation ID: 136158). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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