ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)

gnomAD frequency: 0.00016  dbSNP: rs187532711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457808 SCV001661614 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001457808 SCV001791935 likely benign not provided 2020-04-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002501605 SCV002806703 likely benign Sucrase-isomaltase deficiency 2021-11-29 criteria provided, single submitter clinical testing

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