ClinVar Miner

Submissions for variant NM_001080495.3(TNRC18):c.6818C>T (p.Pro2273Leu)

gnomAD frequency: 0.00113  dbSNP: rs199588962
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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 RCV000891831 SCV001035669 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028413 SCV004968016 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing The c.6818C>T (p.P2273L) alteration is located in exon 25 (coding exon 24) of the TNRC18 gene. This alteration results from a C to T substitution at nucleotide position 6818, causing the proline (P) at amino acid position 2273 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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