ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.297del (p.Ala100fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310416 SCV002602402 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2021-12-31 criteria provided, single submitter clinical testing NM_000288.3(PEX7):c.297delA(A100Lfs*81) is expected to be pathogenic in the context of rhizomelic chondrodysplasia punctata type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX7, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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