Submissions for variant NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del)

dbSNP: rs727502922

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150278	SCV000197301	uncertain significance	not specified	2014-02-13	criteria provided, single submitter	clinical testing	The Ile515del variant in CDH23 has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess the frequency of this variant. This variant causes an in-frame deletion of an a mino acid residue (Ile) at position 515. This variant is a deletion of one amino acid at position 515 and is not predicted to alter the protein reading-frame. I t is unclear if this deletion will impact the protein. In summary, additional in formation is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002514888	SCV003441648	uncertain significance	not provided	2022-03-26	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 162886). This variant has been observed in individual(s) with autosomal recessive deafness (PMID: 28000701). This variant is not present in population databases (gnomAD no frequency). This variant, c.1545_1547del, results in the deletion of 1 amino acid(s) of the CDH23 protein (p.Ile515del), but otherwise preserves the integrity of the reading frame.