ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.550dup (p.Ala184fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003612714 SCV004411019 pathogenic Charcot-Marie-Tooth disease type 4A 2024-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala184Glyfs*10) in the GDAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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