ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.463A>G (p.Ile155Val)

dbSNP: rs2150827870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001911051 SCV002158389 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2021-11-06 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TPK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 155 of the TPK1 protein (p.Ile155Val).
Ambry Genetics RCV002554164 SCV003588865 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.463A>G (p.I155V) alteration is located in exon 7 (coding exon 6) of the TPK1 gene. This alteration results from a A to G substitution at nucleotide position 463, causing the isoleucine (I) at amino acid position 155 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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