ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)

gnomAD frequency: 0.00004  dbSNP: rs529184143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203085 SCV000258214 uncertain significance not specified 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV001339542 SCV001533293 likely benign not provided 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517358 SCV003754991 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.5587G>A (p.V1863I) alteration is located in exon 27 (coding exon 27) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 5587, causing the valine (V) at amino acid position 1863 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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