ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)

gnomAD frequency: 0.00004  dbSNP: rs199735068
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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 RCV001227264 SCV001399616 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001227264 SCV001826982 uncertain significance not provided 2019-05-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002504299 SCV002814116 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259176 SCV003973892 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.3431G>A (p.R1144Q) alteration is located in exon 19 (coding exon 19) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 3431, causing the arginine (R) at amino acid position 1144 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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