Submissions for variant NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr)

gnomAD frequency: 0.00001  dbSNP: rs140384868

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000643970	SCV000765657	uncertain significance	Charcot-Marie-Tooth disease type 4A	2023-06-16	criteria provided, single submitter	clinical testing	This missense change has been observed in individual(s) with clinical features of autosomal dominant Charcot-Marie-Tooth disease (PMID: 33903021). This variant is present in population databases (rs140384868, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 207 of the GDAP1 protein (p.Lys207Thr). ClinVar contains an entry for this variant (Variation ID: 535791). 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 not expected to disrupt GDAP1 protein function.
CeGaT Center for Human Genetics Tuebingen	RCV000762523	SCV000892850	uncertain significance	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000762523	SCV004235132	uncertain significance	not provided	2023-05-04	criteria provided, single submitter	clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV003320362	SCV004024482	uncertain significance	Tip-toe gait	2023-06-02	no assertion criteria provided	clinical testing