ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)

gnomAD frequency: 0.00003  dbSNP: rs765800403
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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) RCV000593378 SCV000708906 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV000593378 SCV002173700 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532655 SCV003531552 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.17869G>A (p.A5957T) alteration is located in exon 84 (coding exon 84) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 17869, causing the alanine (A) at amino acid position 5957 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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