ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)

dbSNP: rs1554547986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643966 SCV000765653 pathogenic Charcot-Marie-Tooth disease type 4A 2023-05-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 535790). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-tooth (CMT) disease (PMID: 17433678, 18504680, 23466821). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Arg191*) 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).
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000643966 SCV004100380 likely pathogenic Charcot-Marie-Tooth disease type 4A criteria provided, single submitter clinical testing The stop gained p.R191* in GDAP1 (NM_018972.4) has been reported to ClinVar as Pathogenic (Auer-Grumbach M et al, 2008; Baránková L et al, 2007). The p.R191* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss-of-function variants in GDAP1 are known to be pathogenic (Cuesta A et al, 2002; Crimella C et al, 2010). For these reasons, this variant has been classified as Likely Pathogenic.
Inherited Neuropathy Consortium RCV000790267 SCV000929668 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000643966 SCV004174593 uncertain significance Charcot-Marie-Tooth disease type 4A 2016-01-06 no assertion criteria provided literature only

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