ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.671C>A (p.Ala224Asp) (rs1553128391)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588354 SCV000697705 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing Variant Summary: The c.671C>A variant involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a pathogenic outcome. The variant is absent from the large, broad ExAC control population. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. One internal specimen carries a pathogenic BRCA1 variant, suggesting that the variant of interest is not the cuasitive variant in this patient. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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