ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)

dbSNP: rs727504644
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Total submissions: 3
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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 RCV000155906 SCV000205617 pathogenic Rare genetic deafness 2013-10-11 criteria provided, single submitter clinical testing The Gly5768fs variant in GPR98 has not been reported in any individuals with hea ring loss or in large population studies. This frameshift variant is predicted t o alter the protein?s amino acid sequence beginning at position 5768 and lead to a premature termination codon 14 amino acids downstream. This alteration is the n predicted to lead to a truncated or absent protein. In summary, this variant m eets our criteria to be classified as pathogenic ( .
GeneDx RCV001009195 SCV001169013 likely pathogenic not provided 2019-01-04 criteria provided, single submitter clinical testing The c.17303_17315del13 likely pathogenic variant in the ADGRV1 gene causes a frameshift starting with codon Glycine 5768, changes this amino acid to a Glutamic Acide residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Gly5768GlufsX14. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has not been previously reported to our knowledge. The c.17303_17315del13 variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we classify this variant as likely pathogenic.
Invitae RCV001009195 SCV002168238 pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly5768Glufs*14) 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). This variant is present in population databases (rs727504644, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with epilepsy (PMID: 32146541). ClinVar contains an entry for this variant (Variation ID: 179121). For these reasons, this variant has been classified as Pathogenic.

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