ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6116A>G (p.Asp2039Gly)

gnomAD frequency: 0.00008  dbSNP: rs779923053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368171 SCV001564554 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169876 SCV003866829 uncertain significance Inborn genetic diseases 2023-02-17 criteria provided, single submitter clinical testing The c.6116A>G (p.D2039G) alteration is located in exon 28 (coding exon 28) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 6116, causing the aspartic acid (D) at amino acid position 2039 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001368171 SCV005626969 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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