ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val)

gnomAD frequency: 0.00002  dbSNP: rs759250273
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776500 SCV000912082 likely benign Familial hypercholesterolemia 2019-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866548 SCV001007659 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-12-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099351 SCV001255799 likely benign Hypobetalipoproteinemia 2017-07-10 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000866548 SCV001255800 benign Hypercholesterolemia, autosomal dominant, 3 2017-07-10 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV004027292 SCV005030923 likely benign Cardiovascular phenotype 2023-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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