ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser)

dbSNP: rs1009994744
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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 RCV000549035 SCV000644775 uncertain significance Atrial septal defect 7 2017-04-24 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NKX2-5-related disease. This sequence change replaces proline with serine at codon 94 of the NKX2-5 protein (p.Pro94Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
PreventionGenetics, part of Exact Sciences RCV004730979 SCV005336168 uncertain significance NKX2-5-related disorder 2024-09-15 no assertion criteria provided clinical testing The NKX2-5 c.280C>T variant is predicted to result in the amino acid substitution p.Pro94Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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