ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu)

gnomAD frequency: 0.00013  dbSNP: rs372939622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513050 SCV001720583 benign Chitotriosidase deficiency 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037922 SCV003747441 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing The c.988C>G (p.Q330E) alteration is located in exon 9 (coding exon 9) of the CHIT1 gene. This alteration results from a C to G substitution at nucleotide position 988, causing the glutamine (Q) at amino acid position 330 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003416378 SCV004124320 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CHIT1: BP4

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