ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)

gnomAD frequency: 0.00002  dbSNP: rs748009304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336129 SCV000430481 uncertain significance Sitosterolemia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519972 SCV003267022 uncertain significance Sitosterolemia 2024-04-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 300 of the ABCG5 protein (p.Phe300Leu). This variant is present in population databases (rs748009304, gnomAD 0.03%). This missense change has been observed in individual(s) with familial hypercholesterolemia (PMID: 32088153). ClinVar contains an entry for this variant (Variation ID: 336046). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003168509 SCV003912596 uncertain significance Cardiovascular phenotype 2022-12-18 criteria provided, single submitter clinical testing The p.F300L variant (also known as c.900C>G), located in coding exon 7 of the ABCG5 gene, results from a C to G substitution at nucleotide position 900. The phenylalanine at codon 300 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492034 SCV004238877 uncertain significance Sitosterolemia 2 2023-04-25 criteria provided, single submitter clinical testing

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