ClinVar Miner

Submissions for variant NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp) (rs372422727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519446 SCV000616678 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CHST14 gene. The R345W variant has not been published as pathogenic or been reported as benign to our knowledge. It has been observed in one other individual with features of a connective tissue disorder referred for exome sequencing at GeneDx, however, this individual harbored additional variants in other genes and a second CHST14 variant was not identified. This variant is also observed in 37/125976 (0.03%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). Additionally, this substitution occurs at a position that is not conserved across species and tryptophan (W) is the wild-type residue at this position in at least one mammalian species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, R345W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
GenomeConnect, ClinGen RCV000509210 SCV000606991 not provided Ehlers-Danlos syndrome, musculocontractural type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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