ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.529C>T (p.Arg177Cys)

dbSNP: rs200777680
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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 RCV001514672 SCV001722576 benign Chitotriosidase deficiency 2022-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037928 SCV003565751 uncertain significance not specified 2021-08-12 criteria provided, single submitter clinical testing The c.529C>T (p.R177C) alteration is located in exon 6 (coding exon 6) of the CHIT1 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the arginine (R) at amino acid position 177 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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