ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)

gnomAD frequency: 0.00003  dbSNP: rs959132080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591486 SCV000707499 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591486 SCV002210458 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532570 SCV003587945 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.2543G>A (p.G848E) alteration is located in exon 13 (coding exon 13) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 2543, causing the glycine (G) at amino acid position 848 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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