ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu)

gnomAD frequency: 0.00004  dbSNP: rs772605124
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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 RCV002019714 SCV002282404 likely benign not provided 2024-03-07 criteria provided, single submitter clinical testing
GeneDx RCV002019714 SCV002571171 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002625404 SCV003686817 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.5833A>G (p.K1945E) 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 5833, causing the lysine (K) at amino acid position 1945 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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