ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)

dbSNP: rs1337798741
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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 RCV003226865 SCV003923222 likely pathogenic Usher syndrome 2023-03-09 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.6219_6228dup10 (p.Glu2077CysfsX28) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.1e-06 in 246778 control chromosomes. To our knowledge, no occurrence of c.6219_6228dup10 in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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