ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln)

dbSNP: rs776241274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039795 SCV001203342 likely benign not provided 2023-04-12 criteria provided, single submitter clinical testing
New York Genome Center RCV001839027 SCV002099024 uncertain significance Febrile seizures, familial, 4 2021-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346268 SCV004066215 uncertain significance Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing The c.15415G>C (p.E5139Q) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a G to C substitution at nucleotide position 15415, causing the glutamic acid (E) at amino acid position 5139 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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