ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.569dup (p.Thr191fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335908 SCV004046203 likely pathogenic KLHL7-related disorder criteria provided, single submitter clinical testing This frameshifting variant in exon 5 of 11 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. Loss-of-function variation in KLHL7 is an established mechanism of disease (PMID: 27392078, 29074562, 31953236). Based on the available evidence, the c.569dup (p.Thr191AsnfsTer19) variant is classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036751 SCV005666859 likely pathogenic Retinitis pigmentosa 42; PERCHING syndrome 2024-06-21 criteria provided, single submitter clinical testing

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