ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu)

gnomAD frequency: 0.00001  dbSNP: rs1560716152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000723080 SCV001765137 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002397501 SCV002713513 uncertain significance Inborn genetic diseases 2020-03-27 criteria provided, single submitter clinical testing The p.P57L variant (also known as c.170C>T), located in coding exon 2 of the SCARB2 gene, results from a C to T substitution at nucleotide position 170. The proline at codon 57 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477676 SCV002775987 uncertain significance Action myoclonus-renal failure syndrome 2022-05-20 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723080 SCV000854211 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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