ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.1A>G (p.Met1Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105618 SCV003792425 pathogenic Charcot-Marie-Tooth disease type 4A 2023-09-08 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2423924). Disruption of the initiator codon has been observed in individuals with autosomal recessive Charcot-Marie-Tooth disease (PMID: 29184355, 33179230). It has also been observed to segregate with disease in related individuals. This sequence change affects the initiator methionine of the GDAP1 mRNA. The next in-frame methionine is located at codon 69.
Fulgent Genetics, Fulgent Genetics RCV005047425 SCV005679114 pathogenic Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 2024-04-10 criteria provided, single submitter clinical testing

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