Submissions for variant NM_032444.4(SLX4):c.1163+2dup

dbSNP: rs2040719850

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Fulgent Genetics, Fulgent Genetics	RCV001536121	SCV001752837	pathogenic	Fanconi anemia complementation group P	2021-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV003523095	SCV004354760	pathogenic	Fanconi anemia	2023-08-11	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 5, but is expected to preserve the integrity of the reading-frame (PMID: 21240277). ClinVar contains an entry for this variant (Variation ID: 1179203). This variant is also known as c.1163+3dupT. This variant has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 21240277). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the SLX4 gene. It does not directly change the encoded amino acid sequence of the SLX4 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
CeGaT Center for Human Genetics Tuebingen	RCV003886522	SCV004704403	likely pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SLX4: PM2, PM3, PP1:Moderate, PP3, PS3:Supporting
OMIM	RCV001536121	SCV000045307	pathogenic	Fanconi anemia complementation group P	2011-02-01	no assertion criteria provided	literature only