ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1528A>G (p.Thr510Ala)

gnomAD frequency: 0.00026  dbSNP: rs201912073
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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 RCV002033675 SCV002276130 uncertain significance not provided 2024-12-09 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 510 of the ARHGEF10 protein (p.Thr510Ala). This variant is present in population databases (rs201912073, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 34169998). ClinVar contains an entry for this variant (Variation ID: 1487955). 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 ARHGEF10 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.
CeGaT Center for Human Genetics Tuebingen RCV002033675 SCV004159403 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ARHGEF10: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV002033675 SCV005195763 uncertain significance not provided criteria provided, single submitter not provided

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