ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)

dbSNP: rs1060499789
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000454137 SCV002059907 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2020-08-01 criteria provided, single submitter research CDH23 c.5749G>A, p.E1917K alters a residue of CDH23 in the Usher1D domain that is completely conserved in all sequenced vertebrates. The variant is homozygous in 3 Palestinian individuals with profound pre-lingual hearing loss and retinitis pigmentosa (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and from gnomAD v2.1.1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522743 SCV003463336 pathogenic not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1917 of the CDH23 protein (p.Glu1917Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with bilateral deafness and/or clinical features of Usher syndrome (PMID: 29889784, 32747562). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 402248). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003476019 SCV004210644 likely pathogenic Pituitary adenoma 5, multiple types 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044653 SCV005681788 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-03-28 criteria provided, single submitter clinical testing
Hereditary Research Laboratory, Bethlehem University RCV000454137 SCV000538084 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2016-06-04 no assertion criteria provided research HL and (in one branch) RP and epilepsy

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