ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) (rs151333262)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000382580 SCV000426898 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290575 SCV000426899 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655093 SCV000777018 uncertain significance Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 4395 of the APOB protein (p.Gly4395Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs151333262, ExAC 0.08%). This variant has not been reported in the literature in individuals with APOB-related disease. ClinVar contains an entry for this variant (Variation ID: 334071). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV001186238 SCV001352609 likely benign Familial hypercholesterolemia 2019-03-13 criteria provided, single submitter clinical testing

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