Submissions for variant NM_033100.4(CDHR1):c.784-3G>A

gnomAD frequency: 0.00009  dbSNP: rs201384219

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001065799	SCV001230783	uncertain significance	not provided	2023-08-17	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 859639). This variant has not been reported in the literature in individuals affected with CDHR1-related conditions. This variant is present in population databases (rs201384219, gnomAD 0.02%). This sequence change falls in intron 8 of the CDHR1 gene. It does not directly change the encoded amino acid sequence of the CDHR1 protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics	RCV002479388	SCV002783219	uncertain significance	Cone-rod dystrophy 15	2021-08-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001065799	SCV001922927	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001065799	SCV001965494	likely benign	not provided		no assertion criteria provided	clinical testing