ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10740C>T (p.Asn3580=) (rs150312765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589240 SCV000696658 benign not provided 2017-01-04 criteria provided, single submitter clinical testing Variant summary: The APOB c.10740C>T (p.Asn3580Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 17/121204 control chromosomes at a frequency of 0.0001403, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic APOB variant (0.0000313), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Robarts Research Institute,Western University RCV000660659 SCV000782793 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771603 SCV000904207 likely benign Familial hypercholesterolemias 2017-08-23 criteria provided, single submitter clinical testing

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