ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.21del (p.Ala10fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041340 SCV003442553 pathogenic not provided 2022-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Perrault syndrome (PMID: 27899912). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala10Profs*117) in the CLPP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLPP are known to be pathogenic (PMID: 23851121, 27899912).
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV005051999 SCV005684974 pathogenic Perrault syndrome 3 criteria provided, single submitter research A known frameshift variant, c.21del (Domínguez-Ruiz M et al., 2019; Clinvar ID: 2138190) in exon 1 of CLPP gene was observed in homozygous state in proband. On segregation, the variant was observed in heterozygous state in his parents. This variant is observed heterozygous state in 6 individuals in gnomAD (v4.1.0) population database (allele frequency:0.000004247). The variant c.21del is absent in our in-house data of 3479 exomes.

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