ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.766dup (p.His256fs) (rs1554700665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627481 SCV000748481 uncertain significance not provided 2018-11-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TGFBR1 gene. The c.766dupC variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). This variant causes a shift in reading frame starting at codon histidine 256, changing it to a proline, and creating a premature stop codon at position 2 of the new reading frame, denoted p.His256ProfsX2. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, only a few other loss of function variants in the TGFBR1 gene have been reported in Human Gene Mutation Database in association with TGFBR1-related disorders (Stenson et al., 2014) and haploinsufficiency is not an established disease mechanism for this gene.

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