ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.157C>G (p.Leu53Val)

gnomAD frequency: 0.00009  dbSNP: rs144282514
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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 RCV001930909 SCV002192341 uncertain significance MHC class I deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 53 of the TAP2 protein (p.Leu53Val). This variant is present in population databases (rs144282514, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418314). 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: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003264264 SCV003967950 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.157C>G (p.L53V) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a C to G substitution at nucleotide position 157, causing the leucine (L) at amino acid position 53 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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