ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala)

gnomAD frequency: 0.00001  dbSNP: rs1356175561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538891 SCV003444176 uncertain significance Charcot-Marie-Tooth disease type 4A 2022-11-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 307 of the GDAP1 protein (p.Thr307Ala). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 695008). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).
Genesis Genome Database RCV000857210 SCV000999794 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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