ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.944C>T (p.Thr315Ile)

dbSNP: rs2077360211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178281 SCV001342675 uncertain significance Familial hypercholesterolemia 2019-11-08 criteria provided, single submitter clinical testing This missense variant (also known as p.Thr294Ile in the mature protein) replaces threonine with isoleucine at codon 315 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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