ClinVar Miner

Submissions for variant NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn)

dbSNP: rs374105211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819542 SCV000960207 uncertain significance Congenital myopathy with internal nuclei and atypical cores 2022-09-26 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. 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 CCDC78 protein function. ClinVar contains an entry for this variant (Variation ID: 662007). This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 67 of the CCDC78 protein (p.Asp67Asn).

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