ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)

dbSNP: rs2135421905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002250982 SCV002521283 pathogenic Usher syndrome type 1F 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The patient's phenotype is considered compatible with PCDH15 related disorder (3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV003679083 SCV004403887 pathogenic not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe21*) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 36384460). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475311 SCV004200868 pathogenic Autosomal recessive nonsyndromic hearing loss 23 2022-08-01 flagged submission clinical testing

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