ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.2377-8_2377-4del (rs528357182)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414459 SCV000491064 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CSPP1 gene. The c.2377-8_2377-4delTTTTA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2377-8_2377-4delTTTTA variant is observed in 69/65,072 (0.1%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.2377-8_2377-4delTTTTA may damage the natural acceptor site for intron 18 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000546968 SCV000654877 benign Joubert syndrome 21 2017-08-02 criteria provided, single submitter clinical testing

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