ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.857G>A (p.Arg286His)

gnomAD frequency: 0.00013  dbSNP: rs140709222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725631 SCV000338299 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000725631 SCV000621100 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TNPO3 gene. The R286H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R286H variant is observed in 12/8654 (0.14%) alleles from individuals of East Asian background (Lek et al., 2016). The R286H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080992 SCV001017839 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1F 2025-01-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001080992 SCV003827724 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1F 2021-01-07 criteria provided, single submitter clinical testing

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