ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.579del (p.Lys193fs) (rs1060500979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466389 SCV000544593 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-09-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the GDAP1 mRNA (c.579delA), causing a frameshift at codon 193. This creates a premature translational stop signal (p.Lys193Asnfs*13) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in GDAP1 are known to be pathogenic. This particular variant has been reported in an individual affected with Charcot-Marie-Tooth disease (PMID: 25614874). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789792 SCV000929176 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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