ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.11C>T (p.Ser4Phe)

gnomAD frequency: 0.00019  dbSNP: rs571573117
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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 RCV000686099 SCV000813602 uncertain significance MHC class I deficiency 2023-08-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 64 of the TAP1 protein (p.Ser64Phe). This variant is present in population databases (rs571573117, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with TAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 566325).
Ambry Genetics RCV004965659 SCV005511161 uncertain significance Inborn genetic diseases 2024-09-18 criteria provided, single submitter clinical testing The c.191C>T (p.S64F) alteration is located in exon 1 (coding exon 1) of the TAP1 gene. This alteration results from a C to T substitution at nucleotide position 191, causing the serine (S) at amino acid position 64 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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