ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser)

gnomAD frequency: 0.00001  dbSNP: rs373807911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797546 SCV002039134 uncertain significance not provided 2021-06-18 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; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002489843 SCV002780317 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001797546 SCV004314678 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616780 SCV005117041 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.7030G>T (p.A2344S) alteration is located in exon 32 (coding exon 32) of the ADGRV1 gene. This alteration results from a G to T substitution at nucleotide position 7030, causing the alanine (A) at amino acid position 2344 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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