Table 8.

Notable SCARB2 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_005506​.4
NP_005497​.1 		c.862C>Tp.Gln288TerIn the French Canadian population, the vast majority of probands are homozygous for this variant [Dibbens et al 2011].
NM_005506​.4 c.1187+2dupT--In the French Canadian population, a small proportion of probands are compound heterozygotes for this variant & c.862C>T [Dibbens et al 2011].
NM_005506​.4
NP_005497​.1 		c.1385_1390delGATCCAinsATGCATGCACCp.Gly462AspfsTer34Homozygosity for this variant was reported in 2 Japanese families w/late-onset disease [Higashiyama et al 2013, Fu et al 2014].

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: SCARB2-Related Action Myoclonus – Renal Failure Syndrome

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