ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)

gnomAD frequency: 0.00008  dbSNP: rs757135353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321843 SCV001512693 likely benign not provided 2024-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486283 SCV002790227 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001321843 SCV004031657 uncertain significance not provided 2023-12-26 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 RCV004035044 SCV004864107 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.2483T>C (p.V828A) alteration is located in exon 13 (coding exon 13) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 2483, causing the valine (V) at amino acid position 828 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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