ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1080_1081delinsAT (p.Leu360_Leu361=)

dbSNP: rs1553126326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584598 SCV000690501 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588069 SCV000697668 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing Variant summary: The MUTYH c.1164_1165delinsAT (p.L388_L389delinsLL) variant involves the alteration of two adjacent nucleotides, resulting in no amino acid change. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 119652 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001247547 SCV001420976 likely benign Familial adenomatous polyposis 2 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584598 SCV004008287 likely benign Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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