ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.116del (p.Lys39fs)

dbSNP: rs778547659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814937 SCV000955375 pathogenic Charcot-Marie-Tooth disease type 4A 2022-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 637504). This premature translational stop signal has been observed in individual(s) with Charcot–Marie–Tooth disease (PMID: 25614874). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Lys39Argfs*5) 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).
Inherited Neuropathy Consortium RCV000789711 SCV000929087 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447240 SCV004174587 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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