ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp)

gnomAD frequency: 0.00002  dbSNP: rs757906025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967272 SCV002205644 uncertain significance Temtamy preaxial brachydactyly syndrome 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV005320991 SCV005987576 uncertain significance Inborn genetic diseases 2025-01-23 criteria provided, single submitter clinical testing The c.685C>T (p.R229W) 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 685, causing the arginine (R) at amino acid position 229 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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