ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)

gnomAD frequency: 0.00006  dbSNP: rs199636312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000689 SCV001157727 uncertain significance not specified 2018-07-25 criteria provided, single submitter clinical testing The ADGRV1 p.Ala562Ser variant (rs199636312), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.007% (17/111,630 alleles) in the Genome Aggregation Database. The alanine at codon 562 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, based on the available information, the clinical significance of this variant is uncertain.
Invitae RCV001359171 SCV001555033 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing

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