ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1239-1G>T

dbSNP: rs373015808
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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 RCV001378988 SCV001576702 pathogenic not provided 2024-02-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the ADGRV1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of autosomal recessive retinitis pigmentosa and/or Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 1067661). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005038168 SCV005666275 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-02-23 criteria provided, single submitter clinical testing

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