ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1351-1G>A

gnomAD frequency: 0.00001  dbSNP: rs565253666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814504 SCV001755490 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568933 SCV003497471 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-01-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the MFSD8 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs565253666, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 31216804). ClinVar contains an entry for this variant (Variation ID: 1180775). 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 disrupt the consensus splice site. 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.

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