ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15701A>G (p.Lys5234Arg)

gnomAD frequency: 0.00002  dbSNP: rs138975725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212486 SCV001384070 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003246761 SCV003938435 uncertain significance Inborn genetic diseases 2023-06-01 criteria provided, single submitter clinical testing The c.15701A>G (p.K5234R) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 15701, causing the lysine (K) at amino acid position 5234 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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