ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.311-1790_408del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456790 SCV000544595 likely pathogenic Charcot-Marie-Tooth disease, type 4A 2016-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion that includes the first 96 nucleotides of exon 3 and the last 1790 nucleotides of intron 2 of the GDAP1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a GDAP1-related disease. This deletion encompasses a region of the GDAP1 protein where a significant number of previously reported GDAP1 missense mutations are found (PMID: 12601710, 14561495, 21753178, 23628762). These observations suggest that this region of GDAP1 is functionally important. For these reasons, this variant has been classified as Likely Pathogenic.

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