ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)

gnomAD frequency: 0.00007  dbSNP: rs140811185
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554435 SCV000644060 uncertain significance Charcot-Marie-Tooth disease type 4A 2024-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 336 of the GDAP1 protein (p.Ala336Ser). This variant is present in population databases (rs140811185, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 35656516). ClinVar contains an entry for this variant (Variation ID: 467754). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GDAP1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000764780 SCV000895923 uncertain significance 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 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000554435 SCV001524558 uncertain significance Charcot-Marie-Tooth disease type 4A 2020-08-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001507739 SCV001713474 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing BP5
Breakthrough Genomics, Breakthrough Genomics RCV001507739 SCV005196002 uncertain significance not provided criteria provided, single submitter not provided
GenomeConnect - Invitae Patient Insights Network RCV003483664 SCV004228611 not provided Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-08-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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