ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)

gnomAD frequency: 0.00010  dbSNP: rs200530343
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615485 SCV000711064 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing The p.Met6001Leu variant in GPR98 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 7/61 554 European and 2/9336 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200530343); however, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Met6001Leu va riant is uncertain.
Illumina Laboratory Services, Illumina RCV001156037 SCV001317513 uncertain significance Usher syndrome type 2C 2018-01-12 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.
Invitae RCV001238549 SCV001411367 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483669 SCV002790896 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532719 SCV003725034 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.18001A>T (p.M6001L) alteration is located in exon 85 (coding exon 85) of the ADGRV1 gene. This alteration results from a A to T substitution at nucleotide position 18001, causing the methionine (M) at amino acid position 6001 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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