ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)

gnomAD frequency: 0.00001  dbSNP: rs763840800
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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 RCV002009720 SCV002264534 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV002009720 SCV004014237 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004042388 SCV004863974 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.14521T>C (p.F4841L) alteration is located in exon 71 (coding exon 71) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 14521, causing the phenylalanine (F) at amino acid position 4841 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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