ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1454G>A (p.Cys485Tyr)

dbSNP: rs199751361
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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 RCV001226353 SCV001398665 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 485 of the TICAM1 protein (p.Cys485Tyr). This variant is present in population databases (rs199751361, gnomAD 0.09%). 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: 953977). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004032569 SCV004965000 uncertain significance not specified 2023-09-26 criteria provided, single submitter clinical testing The c.1454G>A (p.C485Y) alteration is located in exon 2 (coding exon 1) of the TICAM1 gene. This alteration results from a G to A substitution at nucleotide position 1454, causing the cysteine (C) at amino acid position 485 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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