ClinVar Miner

Submissions for variant NM_001290043.2(TAP2):c.115T>C (p.Trp39Arg)

gnomAD frequency: 0.00006  dbSNP: rs776491919
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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 RCV001327744 SCV001518833 uncertain significance MHC class I deficiency 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 39 of the TAP2 protein (p.Trp39Arg). This variant is present in population databases (rs776491919, gnomAD 0.04%). 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: 1027184). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004968040 SCV005511123 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The c.115T>C (p.W39R) alteration is located in exon 2 (coding exon 1) of the TAP2 gene. This alteration results from a T to C substitution at nucleotide position 115, causing the tryptophan (W) at amino acid position 39 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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