ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)

gnomAD frequency: 0.00022  dbSNP: rs182452385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506499 SCV000602442 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765853 SCV000897249 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001347959 SCV001542243 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001347959 SCV002005449 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Identified as a single heterozygous variant in a patient also heterozygous for a 16p12.1 deletion in published literature (PMID: 30190612) but additional evidence is not available; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30190612)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817737 SCV005069280 uncertain significance Optic atrophy 2022-01-01 criteria provided, single submitter clinical testing

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