ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)

gnomAD frequency: 0.00041  dbSNP: rs201072069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991484 SCV001142924 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991484 SCV001512022 benign not provided 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000991484 SCV001801870 likely benign not provided 2021-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030122 SCV004863983 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.14632C>T (p.P4878S) alteration is located in exon 71 (coding exon 71) of the ADGRV1 gene. This alteration results from a C to T substitution at nucleotide position 14632, causing the proline (P) at amino acid position 4878 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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