ClinVar Miner

Submissions for variant NM_000593.6(TAP1):c.437C>T (p.Ala146Val)

gnomAD frequency: 0.00010  dbSNP: rs144830209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950703 SCV001097032 benign MHC class I deficiency 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000950703 SCV002798117 likely benign MHC class I deficiency 2022-03-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236471 SCV005883971 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing Variant summary: TAP1 c.437C>T (p.Ala146Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0011 in 243084 control chromosomes, predominantly at a frequency of 0.0079 within the Latino subpopulation in the gnomAD database, including 2 homozygotes. The observed variant frequency within Latino control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in TAP1 causing MHC Class I Deficiency phenotype. To our knowledge, no occurrence of c.437C>T in individuals affected with MHC Class I Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 771394). Based on the evidence outlined above, the variant was classified as likely benign.

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