Submissions for variant NM_001256447.2(BCAP31):c.341+2T>G

dbSNP: rs1064794057

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000485079	SCV000567690	pathogenic	not provided	2015-09-01	criteria provided, single submitter	clinical testing	The c.341+2T>G substitution in the BCAP31 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.341+2T>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.341+2T>G as a pathogenic variant.
GenomeConnect, ClinGen	RCV000509475	SCV000606901	not provided	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.