ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.178C>T (p.Arg60Cys)

gnomAD frequency: 0.00013  dbSNP: rs143035930
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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 RCV001958977 SCV002240265 likely benign not provided 2024-09-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782839 SCV005395735 uncertain significance not specified 2024-09-04 criteria provided, single submitter clinical testing Variant summary: TBXAS1 c.178C>T (p.Arg60Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-05 in 251408 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in TBXAS1 causing Ghosal Hematodiaphyseal Dysplasia, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.178C>T in individuals affected with Ghosal Hematodiaphyseal Dysplasia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1459406). Based on the evidence outlined above, the variant was classified as uncertain significance.

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