ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.52C>A (p.Gln18Lys)

dbSNP: rs1568004262
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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 RCV001309281 SCV001498776 uncertain significance Epidermodysplasia verruciformis 2023-05-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1011476). This variant has not been reported in the literature in individuals affected with TMC6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 18 of the TMC6 protein (p.Gln18Lys).
Ambry Genetics RCV004679063 SCV005180385 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.52C>A (p.Q18K) alteration is located in exon 2 (coding exon 1) of the TMC6 gene. This alteration results from a C to A substitution at nucleotide position 52, causing the glutamine (Q) at amino acid position 18 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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