ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.924G>A (p.Val308=)

dbSNP: rs1554962286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521730 SCV000621722 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing The c.924 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Severalin-silico splice prediction models predict that c.924 G>A may increase the strength of a cryptic splice donor site or create a new cryptic splice donor site in exon 7, which may supplant the natural donor site 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 RCV002060283 SCV002397272 likely benign Neuronal ceroid lipofuscinosis 2022-11-22 criteria provided, single submitter clinical testing

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