Submissions for variant NM_001079866.2(BCS1L):c.-50+326A>G

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV003474339	SCV004210780	likely pathogenic	Pili torti-deafness syndrome	2024-02-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004587501	SCV005076444	uncertain significance	not specified	2024-04-25	criteria provided, single submitter	clinical testing	Variant summary: BCS1L c.-226A>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 3.2e-05 in 31390 control chromosomes (gnomAD). c.-226A>G has been reported in the literature in individuals affected with features of Mitochondrial Complex III Deficiency, including renal tubulopathy and hepatopathy (Cruz_2017, Bick_2017), and these patients were reported as compound heterozygous with a pathogenic variant. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 28128857, 28496993). ClinVar contains an entry for this variant (Variation ID: 2680147). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.