ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.1367A>G (p.Asn456Ser)

gnomAD frequency: 0.00005  dbSNP: rs371704560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000321583 SCV000338070 uncertain significance not provided 2015-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001308077 SCV001497512 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1F 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 456 of the TNPO3 protein (p.Asn456Ser). This variant is present in population databases (rs371704560, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TNPO3-related conditions. ClinVar contains an entry for this variant (Variation ID: 285167). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TNPO3 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002519173 SCV003734777 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.1367A>G (p.N456S) alteration is located in exon 11 (coding exon 11) of the TNPO3 gene. This alteration results from a A to G substitution at nucleotide position 1367, causing the asparagine (N) at amino acid position 456 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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