ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.769G>T (p.Ala257Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004085818 SCV003542882 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.769G>T (p.A257S) alteration is located in exon 8 (coding exon 8) of the CHIT1 gene. This alteration results from a G to T substitution at nucleotide position 769, causing the alanine (A) at amino acid position 257 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003621671 SCV004458600 benign Chitotriosidase deficiency 2023-10-30 criteria provided, single submitter clinical testing

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