ClinVar Miner

Submissions for variant NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) (rs542541060)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558937 SCV000653009 uncertain significance Spinal muscular atrophy, jokela type; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant 2017-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 72 of the CHCHD10 protein (p.Ala72Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs542541060, ExAC 0.04%). This variant has not been reported in the literature in individuals with a CHCHD10-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on CHCHD10 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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