ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1187-14C>T

dbSNP: rs1284033782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589889 SCV000697188 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing Variant summary: The LDLR c.1187-14C>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 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 1/214534 control chromosomes in the gnomAD dataset at a frequency of 0.0000047, 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. Due to the absence of clinical information and lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)" until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767338 SCV004685781 likely benign Familial hypercholesterolemia 2023-05-17 criteria provided, single submitter clinical testing

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