ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.935A>G (p.Gln312Arg)

gnomAD frequency: 0.00003  dbSNP: rs763590950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703758 SCV000832673 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 312 of the TICAM1 protein (p.Gln312Arg). This variant is present in population databases (rs763590950, gnomAD 0.08%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 580273). This variant has not been reported in the literature in individuals affected with TICAM1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV000703758 SCV002793430 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026639 SCV003749099 uncertain significance not specified 2021-10-05 criteria provided, single submitter clinical testing The c.935A>G (p.Q312R) alteration is located in exon 2 (coding exon 1) of the TICAM1 gene. This alteration results from a A to G substitution at nucleotide position 935, causing the glutamine (Q) at amino acid position 312 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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