ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)

gnomAD frequency: 0.00002  dbSNP: rs771811961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728515 SCV000856099 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728515 SCV002957911 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026946 SCV004862913 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.6524T>C (p.V2175A) alteration is located in exon 30 (coding exon 30) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 6524, causing the valine (V) at amino acid position 2175 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768613 SCV005381084 uncertain significance not specified 2024-08-14 criteria provided, single submitter clinical testing Variant summary: ADGRV1 c.6524T>C (p.Val2175Ala) 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 1.6e-05 in 247922 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.6524T>C has been reported in the literature in at-least one individual affected with post-lingual non-syndromic HL (example: Rim_2021). 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 publication has been ascertained in the context of this evaluation (PMID: 34519870). ClinVar contains an entry for this variant (Variation ID: 593472). Based on the evidence outlined above, the variant was classified as uncertain significance.

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