ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.327C>T (p.Cys109=)

gnomAD frequency: 0.00001  dbSNP: rs863225028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601311 SCV000725775 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002064222 SCV002391776 likely benign Charcot-Marie-Tooth disease, type I 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448887 SCV002611471 likely benign Inborn genetic diseases 2019-07-11 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.
Inherited Neuropathy Consortium RCV000601311 SCV000928955 uncertain significance not specified no assertion criteria provided literature only

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