Submissions for variant NC_000019.10:g.11089413C>A

dbSNP: rs879254374

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001929216	SCV002198380	uncertain significance	Familial hypercholesterolemia	2022-09-03	criteria provided, single submitter	clinical testing	This variant disrupts the c.-136C nucleotide in the LDLR gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 7937987, 8664911, 15359125, 16250003). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1426080). This variant has been observed in individual(s) with clinical features of autosomal dominant familial hypercholesterolemia (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the LDLR gene. It does not change the encoded amino acid sequence of the LDLR protein.