ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.501del (p.Glu168fs) (rs886041386)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000366418 SCV000329934 pathogenic not provided 2016-07-20 criteria provided, single submitter clinical testing The c.501delA pathogenic variant in the GDAP1 gene has been reported previously in association with CMT; however, additional clinical information and inheritance pattern were not reported (DiVincenzo et al., 2015). The c.501delA deletion causes a frameshift starting with codon Glutamic acid 168, changes this amino acid to a Serine residue and creates a premature Stop codon at position4 of the new reading frame, denoted p.Glu168SerfsX4. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Inherited Neuropathy Consortium RCV000789712 SCV000929088 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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