ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter)

dbSNP: rs1578330963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science, University of Waterloo RCV001376187 SCV001573239 pathogenic Fraser syndrome 1 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This is a stop-gained variant in gene FRAS1, which causes a premature termination codon NP_079350.5:p.Lys2068Ter. Two other stop-gained, loss-of-function variants in the same gene have been reported in ClinVar (435260, 197861).

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