ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.564G>T (p.Glu188Asp)

gnomAD frequency: 0.00010  dbSNP: rs377529304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826326 SCV000967910 likely benign not provided 2018-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000826326 SCV001384517 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538247 SCV003749130 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.564G>T (p.E188D) alteration is located in exon 6 (coding exon 6) of the ADGRV1 gene. This alteration results from a G to T substitution at nucleotide position 564, causing the glutamic acid (E) at amino acid position 188 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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