ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.37G>A (p.Asp13Asn)

gnomAD frequency: 0.00001  dbSNP: rs142880589
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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 RCV001055148 SCV001219520 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 13 of the TICAM1 protein (p.Asp13Asn). This variant is present in population databases (rs142880589, gnomAD 0.003%). 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: 850876). 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 asparagine 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 RCV004031744 SCV003614105 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.37G>A (p.D13N) 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 37, causing the aspartic acid (D) at amino acid position 13 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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