ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004766573 SCV005381311 likely pathogenic Neuronal ceroid lipofuscinosis 2024-08-06 criteria provided, single submitter clinical testing Variant summary: MFSD8 c.847T>G (p.Phe283Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251246 control chromosomes (gnomAD). c.847T>G has been reported in the literature in individuals affected with Neuronal Ceroid-Lipofuscinosis (Panjeshahi_2023). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 37074398). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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