ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)

dbSNP: rs773478255
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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 RCV000703465 SCV000832365 uncertain significance Charcot-Marie-Tooth disease, type I 2024-05-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 159 of the PMP22 protein (p.Arg159Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PMP22-related conditions. ClinVar contains an entry for this variant (Variation ID: 580036). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genesis Genome Database RCV000703465 SCV000999585 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857017 SCV000999586 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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