ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) (rs1597607920)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360601 SCV001556526 uncertain significance Charcot-Marie-Tooth disease, type I 2020-08-14 criteria provided, single submitter clinical testing This variant, c.251_253del, results in the deletion of 1 amino acid(s) of the PMP22 protein (p.Phe84del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with PMP22-related conditions (PMID: 9633821, 11355152). In at least one individual the variant was observed to be de novo. This variant is also known as T300CT deletion. ClinVar contains an entry for this variant (Variation ID: 637837). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Inherited Neuropathy Consortium RCV000790167 SCV000929558 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only
Genesis Genome Database RCV000857021 SCV000999591 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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