ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)

gnomAD frequency: 0.00001  dbSNP: rs776310516
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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 RCV001061180 SCV001225913 uncertain significance Atrial septal defect 7 2021-06-04 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NKX2-5-related conditions. This variant is present in population databases (rs776310516, ExAC 0.002%). This sequence change replaces glutamic acid with aspartic acid at codon 32 of the NKX2-5 protein (p.Glu32Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Fulgent Genetics, Fulgent Genetics RCV002489668 SCV002781938 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 2021-07-26 criteria provided, single submitter clinical testing

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