ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.1735A>G (p.Asn579Asp)

gnomAD frequency: 0.00005  dbSNP: rs775868906
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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 RCV000703524 SCV000832427 uncertain significance Primary ciliary dyskinesia 6 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 579 of the NME8 protein (p.Asn579Asp). This variant is present in population databases (rs775868906, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NME8-related conditions. ClinVar contains an entry for this variant (Variation ID: 580084). 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 NME8 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 RCV002397464 SCV002713280 uncertain significance Primary ciliary dyskinesia 2023-06-06 criteria provided, single submitter clinical testing The c.1735A>G (p.N579D) alteration is located in exon 17 (coding exon 15) of the NME8 gene. This alteration results from a A to G substitution at nucleotide position 1735, causing the asparagine (N) at amino acid position 579 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000703524 SCV002799721 uncertain significance Primary ciliary dyskinesia 6 2022-04-21 criteria provided, single submitter clinical testing

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