ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp)

gnomAD frequency: 0.00014  dbSNP: rs74040399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800256 SCV000939957 uncertain significance Temtamy preaxial brachydactyly syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 244 of the CHSY1 protein (p.Arg244Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs74040399, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CHSY1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002537119 SCV003702747 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.730C>T (p.R244W) alteration is located in exon 2 (coding exon 2) of the CHSY1 gene. This alteration results from a C to T substitution at nucleotide position 730, causing the arginine (R) at amino acid position 244 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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