ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)

gnomAD frequency: 0.00009  dbSNP: rs74359855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807139 SCV000947178 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 592 of the TICAM1 protein (p.Gly592Arg). This variant is present in population databases (rs74359855, gnomAD 0.2%). 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: 651722). 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. 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 RCV004028280 SCV003872178 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.1774G>A (p.G592R) 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 1774, causing the glycine (G) at amino acid position 592 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV003117596 SCV003798479 likely risk allele Susceptibility to severe COVID-19 2022-07-01 no assertion criteria provided research

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