ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.397G>T (p.Val133Phe) (rs1554107200)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetic Medicine, Lausanne University Hospital RCV000660862 SCV000778867 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2w 2018-07-03 criteria provided, single submitter clinical testing The c.397G>T (p.Val133Phe) variant in HARS has never been described in any public databases. It is predicted to be deleterious by various in-silico software as CADD, VEST3, MutationTaster, SIFT. It affects the 1st base of exon 5 and is predicted to lead to an incorrect exon splicing. This variant is surrounded by known pathogenic variants causing AD CMT (Safka Brozkova, 2015).

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