ClinVar Miner

Submissions for variant NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)

gnomAD frequency: 0.00002  dbSNP: rs758657734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV001731225 SCV001981639 likely pathogenic Macular corneal dystrophy 2021-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001731225 SCV003453847 pathogenic Macular corneal dystrophy 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Trp333 amino acid residue in CHST6. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20539220). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHST6 protein function. ClinVar contains an entry for this variant (Variation ID: 1300206). This missense change has been observed in individuals with corneal macular dystrophy (PMID: 32472422, 35985662; Invitae). This variant is present in population databases (rs758657734, gnomAD 0.003%). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 333 of the CHST6 protein (p.Trp333Arg).
MGZ Medical Genetics Center RCV001731225 SCV002581213 uncertain significance Macular corneal dystrophy 2021-10-21 flagged submission clinical testing

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