ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.1273C>A (p.His425Asn)

gnomAD frequency: 0.00005  dbSNP: rs755152246
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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 RCV001326175 SCV001517189 uncertain significance Aortic valve disease 2 2022-10-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TBX5 protein function. ClinVar contains an entry for this variant (Variation ID: 1025814). This variant has not been reported in the literature in individuals affected with TBX5-related conditions. This variant is present in population databases (rs755152246, gnomAD 0.009%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 425 of the TBX5 protein (p.His425Asn).
Ambry Genetics RCV002377420 SCV002684826 uncertain significance Cardiovascular phenotype 2022-08-03 criteria provided, single submitter clinical testing The c.1273C>A (p.H425N) alteration is located in exon 9 (coding exon 8) of the TBX5 gene. This alteration results from a C to A substitution at nucleotide position 1273, causing the histidine (H) at amino acid position 425 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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