ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)

gnomAD frequency: 0.00004  dbSNP: rs765063091
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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) RCV000732354 SCV000860304 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157415 SCV001318983 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000732354 SCV001399260 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477712 SCV002781583 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000732354 SCV005439266 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Identified in a patient with bilateral hearing loss and variants in additional genes in published literature (PMID: 34515852); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34515852)

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