ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15973C>A (p.Gln5325Lys)

gnomAD frequency: 0.00001  dbSNP: rs767603980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205301 SCV001376548 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003246753 SCV003943079 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.15973C>A (p.Q5325K) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a C to A substitution at nucleotide position 15973, causing the glutamine (Q) at amino acid position 5325 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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