ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1600C>A (p.Gln534Lys)

gnomAD frequency: 0.00018  dbSNP: rs142171170
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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 RCV001990080 SCV002230590 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 534 of the TICAM1 protein (p.Gln534Lys). This variant is present in population databases (rs142171170, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1450310). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004043951 SCV004965001 uncertain significance not specified 2024-01-09 criteria provided, single submitter clinical testing The c.1600C>A (p.Q534K) alteration is located in exon 2 (coding exon 1) of the TICAM1 gene. This alteration results from a C to A substitution at nucleotide position 1600, causing the glutamine (Q) at amino acid position 534 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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