ClinVar Miner

Submissions for variant NM_002772.3(TMPRSS15):c.2536A>C (p.Lys846Gln)

gnomAD frequency: 0.00010  dbSNP: rs200483285
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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 RCV000964396 SCV001111596 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029915 SCV004050900 uncertain significance not specified 2023-08-04 criteria provided, single submitter clinical testing The c.2536A>C (p.K846Q) alteration is located in exon 22 (coding exon 22) of the TMPRSS15 gene. This alteration results from a A to C substitution at nucleotide position 2536, causing the lysine (K) at amino acid position 846 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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