ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.2107G>A (p.Ala703Thr)

gnomAD frequency: 0.00006  dbSNP: rs200326236
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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 RCV000704138 SCV000833075 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 703 of the TICAM1 protein (p.Ala703Thr). This variant is present in population databases (rs200326236, gnomAD 0.007%). 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: 580558). 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: "Benign"; 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 RCV004669094 SCV005171133 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing The c.2107G>A (p.A703T) 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 2107, causing the alanine (A) at amino acid position 703 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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