ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)

dbSNP: rs780664266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770225 SCV004654426 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 33089500). This variant is present in population databases (rs780664266, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser4880*) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589).
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001199957 SCV001370754 pathogenic Usher syndrome type 2A 2019-12-10 no assertion criteria provided research

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