ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala)

gnomAD frequency: 0.00011  dbSNP: rs201186767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243653 SCV001416825 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001243653 SCV002012906 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002568569 SCV003708202 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.5260A>G (p.T1754A) alteration is located in exon 24 (coding exon 24) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 5260, causing the threonine (T) at amino acid position 1754 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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