ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002569647 SCV002938050 uncertain significance Charcot-Marie-Tooth disease type 4A 2022-08-18 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GDAP1 protein function. This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. This variant is present in population databases (rs779770529, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 169 of the GDAP1 protein (p.Ser169Phe).

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