ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) (rs1064796283)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481446 SCV000572844 uncertain significance not provided 2018-11-02 criteria provided, single submitter clinical testing The D1023N variant has been previously published as a homozygous variant in association with hearing loss (Shearer et al., 2013). The variant is not observed in large population cohorts (Lek et al., 2016). D1023N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825302 SCV000966597 uncertain significance not specified 2019-01-25 criteria provided, single submitter clinical testing The p.Asp1023Asn variant in CDH23 has been previously reported in one individual with hearing loss, who was homozygous for the variant (Shearer 2013). It is present in 0.001% (1/106970) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and in ClinVar (Variation ID 423185). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2, PP3, PM3_Supporting.

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