Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725730 | SCV000338978 | uncertain significance | not provided | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987532 | SCV001136847 | uncertain significance | Usher syndrome type 2C | 2023-06-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725730 | SCV001421406 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000146071 | SCV002104020 | uncertain significance | not specified | 2022-02-16 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.1797A>T (p.Arg599Ser) results in a non-conservative amino acid change located in the Na-Ca exchanger/integrin-beta4 domain (IPR003644) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.6e-05 in 248454 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in ADGRV1 causing Usher Syndrome (7.6e-05 vs 0.0054), allowing no conclusion about variant significance. c.1797A>T has been reported in the literature in an individual affected with early onset hearing loss without strong evidence for causality (example: Miyagawa_2013). This report does not provide unequivocal conclusions about association of the variant with Usher Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=2) and benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genetic Services Laboratory, |
RCV000146071 | SCV000193248 | likely benign | not specified | no assertion criteria provided | clinical testing |