ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)

dbSNP: rs1555527166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485237 SCV000568778 likely pathogenic not provided 2016-10-13 criteria provided, single submitter clinical testing The c.727_729delTCC variant in the MYH3 gene has been reported previously segregating in a family with distal arthrogryposis type 8 (Chong et al., 2015). The c.727_729delTCC variant causes an in-frame deletion of one amnio acid, Serine 243, denoted p.Ser243del. The c.727_729delTCC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.727_729delTCC as a likely pathogenic variant.
Clinical Genomics Laboratory, Washington University in St. Louis RCV000185628 SCV005045075 likely pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2024-02-20 criteria provided, single submitter clinical testing The MYH3 c.727_729del (p.Ser243del) variant has been reported in at least two unrelated individuals with contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A and is reported to segregate with disease in three individuals in one family (Chong JX et al., PMID: 25957469; Zieba J et al., PMID: 28205585). This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant is predicted to cause a change in the length of the protein due to an in-frame deletion of a serine residue in a non-repeat region. This variant has been reported in the ClinVar database as a germline pathogenic or likely pathogenic variant by three submitters. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.
OMIM RCV000185628 SCV000238540 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2015-05-07 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000185628 SCV000281695 pathogenic Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 2015-05-19 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755065 SCV000882883 likely pathogenic Spondylocarpotarsal synostosis syndrome 2017-02-16 no assertion criteria provided research

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