ClinVar Miner

Submissions for variant NM_001145901.2(SARS2):c.30G>A (p.Trp10Ter) (rs145754412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198294 SCV000252220 pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing p.Trp10Stop (TGG>TGA): c.30 G>A in exon 1 of the SARS2 gene (NM_017827.3) The W10X nonsense mutation in the SARS2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is expected to be a pathogenic mutation. The variant is found in MITONUC-MITOP panel(s).
GenomeConnect, ClinGen RCV000709986 SCV000840354 not provided Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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