ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) (rs376900429)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039576 SCV000063265 uncertain significance not specified 2011-10-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser1259Thr vari ant in GPR98 has not been reported in the literature nor previously identified b y our laboratory. Although this residue is highly conserved across species and c omputational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Ser1259Thr v ariant may impact the protein, this information is not predictive enough to assu me pathogenicity. In summary, the clinical significance of this variant cannot b e determined with certainty at this time.
Fulgent Genetics,Fulgent Genetics RCV000764615 SCV000895722 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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