ClinVar Miner

Submissions for variant NM_016098.4(MPC1):c.301C>T (p.His101Tyr)

dbSNP: rs200694745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004035299 SCV003948674 likely benign not specified 2023-04-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Department of Molecular Biology and Genetics, Acibadem University RCV001251006 SCV001424918 uncertain significance Fraser syndrome 3 no assertion criteria provided research

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