ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) (rs142392473)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481390 SCV000565519 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing p.Asp307Asn (D307N) (GAC>AAC): c.919 G>A in exon 7 of the SCARB2 gene (NM_005506.3)A variant of uncertain significance has been identified in the SCARB2 gene. The D307N variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The D307N variant was not observed with any significant frequency in approximately6,500 individuals of European American ancestry in the NHLBI Exome Sequencing Project. TheD307N variant is a semi-conservative amino acid substitution, which may impact secondary proteinstructure as these residues differ in some properties. However, this substitution occurs at a position notconserved. In silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function. Therefore, based on the currently available information, itis unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000549068 SCV000636470 uncertain significance Progressive myoclonic epilepsy 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 307 of the SCARB2 protein (p.Asp307Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs142392473, ExAC 0.03%). This variant has not been reported in the literature in individuals with SCARB2-related disease. ClinVar contains an entry for this variant (Variation ID: 418468). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000764552 SCV000895638 uncertain significance Epilepsy, progressive myoclonic 4, with or without renal failure 2018-10-31 criteria provided, single submitter clinical testing

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