ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003319957 SCV004023395 likely pathogenic Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 2023-07-20 criteria provided, single submitter clinical testing The variant has not been identified in the general population (gnomAD). It has not yet been described in the literature or in the ClinVar and dbSNP151 databases. (as of 07/10/2023) DA2A and DA2B3 underlie heterozygous pathogenic missense variants in the domain of the myosin head and neck in most cases. The alteration was not detected in the patient's parents, so it should be considered a de novo variant. Bioinformatically, the alteration is inconsistently classified as "probably disease-causing" (SIFT) or "benign" (PolyPhen2, mutation Taster). Therfore, the variant has been classified as "likely pathogenic" (ACMG criteria).

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