Submissions for variant NM_032444.4(SLX4):c.2160+8C>T

gnomAD frequency: 0.00011  dbSNP: rs374004875

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001822516	SCV002065242	uncertain significance	not specified	2021-04-29	criteria provided, single submitter	clinical testing	DNA sequence analysis of the SLX4 gene demonstrated two sequence changes. The first sequence change was identified in intron 10, c.2160+8C>T. This sequence change has been described in gnomAD with a frequency of 0.025% in the African sub-population (dbSNP rs374004875). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the SLX4 gene that has not been identified to date. This change does not appear to have been previously described in patients with SLX4-related disorders. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Invitae	RCV002077316	SCV002479113	likely benign	Fanconi anemia	2023-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003913412	SCV004727849	likely benign	SLX4-related disorder	2021-10-21	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).