ClinVar Miner

Submissions for variant NM_001908.5(CTSB):c.820A>T (p.Met274Leu)

gnomAD frequency: 0.00013  dbSNP: rs201335839
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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 RCV002097641 SCV002385627 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045778 SCV003630086 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.820A>T (p.M274L) alteration is located in exon 9 (coding exon 8) of the CTSB gene. This alteration results from a A to T substitution at nucleotide position 820, causing the methionine (M) at amino acid position 274 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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