ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1239G>A (p.Thr413=) (rs777011006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589899 SCV000697191 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing Variant summary: The LDLR c.1239G>A (p.Thr413Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of multiple ESE sites. These predictions have yet to be confirmed by functional studies. This variant was found in 2/120584 control chromosomes from ExAC at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic LDLR variant (0.0012508). 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 VUS-possibly benign.
Invitae RCV000477036 SCV000556788 likely benign Familial hypercholesterolemia 2016-11-03 criteria provided, single submitter clinical testing

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