Submissions for variant NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)

dbSNP: rs387906306

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001201377	SCV000285033	pathogenic	Familial hypercholesterolemia	2022-01-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3733). This variant is also known as p.201-206dup and CKDKSD206–207ins. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 7581403, 7649546, 10978268, 20145306). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs387906306, gnomAD 0.0009%). This variant, c.664_681dup, results in the insertion of 6 amino acid(s) of the LDLR protein (p.Cys222_Asp227dup), but otherwise preserves the integrity of the reading frame.
LDLR-LOVD, British Heart Foundation	RCV000003931	SCV000294867	likely pathogenic	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	RCV000003931	SCV001653599	likely pathogenic	Hypercholesterolemia, familial, 1	2021-05-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003457636	SCV004185153	likely pathogenic	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LDLR: PM2, PM4, PS2:Moderate, PS4:Moderate
OMIM	RCV000003931	SCV000024096	pathogenic	Hypercholesterolemia, familial, 1	1995-01-01	no assertion criteria provided	literature only
Natera, Inc.	RCV001201377	SCV002086379	pathogenic	Familial hypercholesterolemia	2021-05-07	no assertion criteria provided	clinical testing