ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.289G>A (p.Gly97Arg)

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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 RCV002610946 SCV003499608 benign Chitotriosidase deficiency 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004897792 SCV005554045 uncertain significance not specified 2024-08-20 criteria provided, single submitter clinical testing The c.289G>A (p.G97R) alteration is located in exon 4 (coding exon 4) of the CHIT1 gene. This alteration results from a G to A substitution at nucleotide position 289, causing the glycine (G) at amino acid position 97 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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