ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.745G>T (p.Val249Phe)

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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 RCV004790141 SCV005400700 likely pathogenic Haim-Munk syndrome 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.745G>T(p.Val249Phe) variant in CTSC gene has been reported in homozygous or compound heterozygous state in individuals affected with CTSC related disorder (Toomes C, et. al., 1999; Hart PS, et. al., 2000; Selvaraju V, et. al., 2003). The p.Val249Phe variant is absent in gnomAD Exomes database. This variant has not been reported to the ClinVar database. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - disease causing) predict damaging effect on protein structure and function for this variant. The reference amino acid in CTSC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 249 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Likely Pathogenic.

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