ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.665C>T (p.Thr222Met)

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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 RCV003622272 SCV004550028 benign Chitotriosidase deficiency 2023-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004374305 SCV004923532 uncertain significance not specified 2024-01-22 criteria provided, single submitter clinical testing The c.665C>T (p.T222M) alteration is located in exon 7 (coding exon 7) of the CHIT1 gene. This alteration results from a C to T substitution at nucleotide position 665, causing the threonine (T) at amino acid position 222 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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