ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)

gnomAD frequency: 0.00024  dbSNP: rs370948871
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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 RCV001370777 SCV001567310 uncertain significance Primary ciliary dyskinesia 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 410 of the CCDC40 protein (p.Asp410Asn). This variant is present in population databases (rs370948871, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. ClinVar contains an entry for this variant (Variation ID: 1061235). 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 CCDC40 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 RCV001370777 SCV002663517 uncertain significance Primary ciliary dyskinesia 2024-12-10 criteria provided, single submitter clinical testing The c.1228G>A (p.D410N) alteration is located in exon 8 (coding exon 8) of the CCDC40 gene. This alteration results from a G to A substitution at nucleotide position 1228, causing the aspartic acid (D) at amino acid position 410 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002488168 SCV002793614 uncertain significance Primary ciliary dyskinesia 15 2021-12-10 criteria provided, single submitter clinical testing

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