ClinVar Miner

Submissions for variant NM_003190.5(TAPBP):c.203T>C (p.Val68Ala)

gnomAD frequency: 0.00003  dbSNP: rs759240284
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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 RCV001907764 SCV002130009 uncertain significance MHC class I deficiency 2022-08-10 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 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1364962). This variant has not been reported in the literature in individuals affected with TAPBP-related conditions. This variant is present in population databases (rs759240284, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 68 of the TAPBP protein (p.Val68Ala).
Ambry Genetics RCV004039899 SCV004962553 uncertain significance not specified 2023-12-22 criteria provided, single submitter clinical testing The c.203T>C (p.V68A) alteration is located in exon 2 (coding exon 2) of the TAPBP gene. This alteration results from a T to C substitution at nucleotide position 203, causing the valine (V) at amino acid position 68 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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