ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)

gnomAD frequency: 0.00001  dbSNP: rs756490783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671939 SCV000796981 uncertain significance Usher syndrome type 1F 2018-01-05 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000671939 SCV003761041 uncertain significance Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation The p.Thr1373Ile variant in PCDH15 has been reported in 2 individuals, in the compound heterozygous state, with Usher syndrome type 1F (PMID: 23767834) and has been identified in 0.02% (3/18394) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs756490783). Although this variant has been seen in the general population in a heterozygous state, its frequency is not high enough to rule out a pathogenic role. This variant has also been reported in ClinVar (Variation ID#: 556004) and has been interpreted as a variant of uncertain significance by Counsyl. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr1373Ile variant is uncertain. ACMG/AMP Criteria applied: none (Richards 2015).
Baylor Genetics RCV004568545 SCV005055119 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23 2024-01-24 criteria provided, single submitter clinical testing

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