ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)

gnomAD frequency: 0.00002  dbSNP: rs587777712
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144070 SCV003255770 uncertain significance not provided 2022-08-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 156013). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25025039). This variant is present in population databases (rs587777712, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 338 of the ARHGEF10 protein (p.Arg338Thr).
Revvity Omics, Revvity Omics RCV003137643 SCV003826894 uncertain significance Autosomal dominant slowed nerve conduction velocity 2019-10-11 criteria provided, single submitter clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV000144884 SCV000118595 likely pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research
OMIM RCV000144070 SCV000189142 uncertain significance not provided 2016-08-12 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003137643 SCV004011922 uncertain significance Autosomal dominant slowed nerve conduction velocity 2016-01-06 no assertion criteria provided literature only

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