ClinVar Miner

Submissions for variant NM_002465.4(MYBPC1):c.355T>C (p.Trp119Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004821441 SCV005442669 uncertain significance Lethal congenital contracture syndrome 4 criteria provided, single submitter clinical testing The observed missense variant c.355T>Cp.Trp119Arg in the MYBPC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.0004% in the gnomAD Exomes. The amino acid Trp at position 119 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The same variant has been detected in the spouse.

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