ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.944del (p.Ser315fs)

dbSNP: rs2128469474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics, University of Kinshasa RCV002274224 SCV002097243 likely pathogenic PERCHING syndrome 2022-02-11 criteria provided, single submitter clinical testing The KLHL7 c.944delG (p.Ser315ThrfsTer23) variant results in a frameshift and is predicted to result in premature termination or absence of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ser315ThrfsTer23 variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the variant consequence, its rarity, and application of the ACMG criteria, the p.Ser315ThrfsTer23 variant is classified as likely pathogenic for PERCHING syndrome. In addition, this individual is also carrying another variant, inherited from the mother, the c.793+5G>C variant in KLHL7.
Illumina Laboratory Services, Illumina RCV002274224 SCV004801537 likely pathogenic PERCHING syndrome 2021-04-29 criteria provided, single submitter clinical testing The KLHL7 c.944delG (p.Ser315ThrfsTer23) variant results in a frameshift and is predicted to result in premature termination or absence of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ser315ThrfsTer23 variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the variant consequence, its rarity, and application of the ACMG criteria, the p.Ser315ThrfsTer23 variant is classified as likely pathogenic for PERCHING syndrome.

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