ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.664del (p.Ala222fs)

dbSNP: rs761918152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002221415 SCV002498680 uncertain significance Autosomal recessive nonsyndromic hearing loss 29 2021-06-04 criteria provided, single submitter clinical testing This sequence change is a deletion of 1 bp in exon 2 (of 2) of CLDN14 that is predicted to create a premature termination codon at position 225 (p.(Ala222Profs*4)). While this is not anticipated to result in nonsense mediated decay, it is expected to remove the last 15 amino acids in a region of unknown function. The variant is present in a single individual in a large population cohort (1/250,702 alleles in gnomAD v2.1), and has not been reported in the relevant medical literature or databases. Based on the classification scheme RMH Modified ACMG Guidelines v1.3.2, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PVS1_Moderate, PM2_Supporting.

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