Submissions for variant NM_001277115.2(DNAH11):c.13163-1G>A

dbSNP: rs762596479

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001358130	SCV001553786	likely pathogenic	not provided		no assertion criteria provided	clinical testing	The DNAH11 c.13163-1G>A variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs762596479) and in control databases in 1 of 248738 chromosomes at a frequency of 0.00000402 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the European (non-Finnish) population in 1 of 112778 chromosomes (freq: 0.000009), but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), Other, or South Asian populations. The c.13163-1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. In addition, three of four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a difference in splicing and the loss of the canonical 3' splice site. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic.