ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) (rs202211640)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725549 SCV000337699 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000388577 SCV000618500 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing The P2939S variant in the ADGRV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P2939S variant is observed in 41/9800 (0.42%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P2939S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P2939S as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000388577 SCV000711048 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Pro2939Ser in Exon 39 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.4% (41/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs202211640).
Invitae RCV000725549 SCV001063618 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing

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