ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.118C>G (p.Pro40Ala)

gnomAD frequency: 0.00013  dbSNP: rs374017520
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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 RCV000932934 SCV001078626 likely benign Epidermodysplasia verruciformis 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544464 SCV003680426 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.118C>G (p.P40A) alteration is located in exon 2 (coding exon 1) of the TMC8 gene. This alteration results from a C to G substitution at nucleotide position 118, causing the proline (P) at amino acid position 40 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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