ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)

gnomAD frequency: 0.00003  dbSNP: rs547076322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001154170 SCV001315505 uncertain significance Usher syndrome type 2C 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557314 SCV003525882 benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155363 SCV003844205 uncertain significance not specified 2024-07-17 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.2039A>G (p.Asp680Gly) 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 2.8e-05 in 247616 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. hearing loss and febrile seizures (Miyagawa_2013, Han_2020). These report(s) do 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. The following publications have been ascertained in the context of this evaluation (PMID: 23967202, 32962041). ClinVar contains an entry for this variant (Variation ID: 905573). Based on the evidence outlined above, the variant was classified as uncertain significance.

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