ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)

dbSNP: rs1754555183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310513 SCV001500346 likely pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Invitae RCV001310513 SCV003525925 pathogenic not provided 2021-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1012516). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22147658). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser3646Metfs*27) 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, 26667666, 30029497, 32467589).

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