ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln)

dbSNP: rs886038980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418390 SCV000528328 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TGFBR1 gene. The R11Q variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R11Q variant isa semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. However, this substitution occurs at a position that is not conserved across species, and in silicoanalysis predicts this variant likely does not alter the protein structure/function. Nevertheless, data from controlindividuals was not available to assess whether R11Q may be a common benign variant in the general population.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.This result cannot be interpreted for diagnosis or used for family member screening at this time
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987535 SCV004803396 uncertain significance not specified 2024-01-15 criteria provided, single submitter clinical testing Variant summary: TGFBR1 c.32G>A (p.Arg11Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-06 in 926002 control chromosomes (gnomAD v4.0). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.32G>A in individuals affected with Loeys-Dietz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 386598). Based on the evidence outlined above, the variant was classified as uncertain significance.

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