ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly)

gnomAD frequency: 0.00001  dbSNP: rs376868259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548872 SCV000644074 uncertain significance Charcot-Marie-Tooth disease type 4A 2024-08-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2 of the GDAP1 protein (p.Ala2Gly). This variant is present in population databases (rs376868259, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 467766). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001507737 SCV001713469 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001507737 SCV005196001 uncertain significance not provided criteria provided, single submitter not provided

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