Submissions for variant NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)

dbSNP: rs879254834

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	RCV000238140	SCV004022458	uncertain significance	Hypercholesterolemia, familial, 1	2023-04-28	reviewed by expert panel	curation	The NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes PM2, PP3, and PP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2: This variant is absent from gnomAD v2.1.1 PP3: REVEL= 0.93 PP4: Variant meets PM2 and is identified in at least 1 index case who fulfills SB definite criteria for FH from PMID 8697568, after alternative causes of high cholesterol were excluded.
LDLR-LOVD, British Heart Foundation	RCV000238140	SCV000295301	likely pathogenic	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Robarts Research Institute, Western University	RCV000238140	SCV000782909	uncertain significance	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing