ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)

dbSNP: rs759518211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018435 SCV002302783 uncertain significance Atrial septal defect 7 2020-11-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NKX2-5-related conditions. This variant is present in population databases (rs759518211, ExAC 0.002%). This sequence change replaces alanine with threonine at codon 255 of the NKX2-5 protein (p.Ala255Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV004046773 SCV003748098 uncertain significance Cardiovascular phenotype 2021-08-30 criteria provided, single submitter clinical testing The c.763G>A (p.A255T) alteration is located in exon 2 (coding exon 2) of the NKX2-5 gene. This alteration results from a G to A substitution at nucleotide position 763, causing the alanine (A) at amino acid position 255 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
New York Genome Center RCV003336500 SCV004046527 uncertain significance Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 2023-02-24 criteria provided, single submitter clinical testing

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