ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)

gnomAD frequency: 0.00053  dbSNP: rs200576500
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179197 SCV000231406 uncertain significance not provided 2014-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179197 SCV001200944 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001153105 SCV001314360 uncertain significance Usher syndrome type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000179197 SCV002013546 likely benign not provided 2021-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609317 SCV005109603 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.11761G>A (p.A3921T) alteration is located in exon 57 (coding exon 57) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 11761, causing the alanine (A) at amino acid position 3921 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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