ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) (rs140948465)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000001061 SCV000680290 likely pathogenic Neuronal ceroid lipofuscinosis 7 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000001061 SCV001218061 pathogenic Neuronal ceroid lipofuscinosis 7 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 294 of the MFSD8 protein (p.Thr294Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) and families with clinical features of neuronal ceroid lipofuscinosis (PMID: 19177532, 25439737, 19201763). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1006). This variant has been reported to affect MFSD8 protein function (PMID: 22668694). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001061 SCV000021211 pathogenic Neuronal ceroid lipofuscinosis 7 2009-03-01 no assertion criteria provided literature only
GeneReviews RCV000001061 SCV000087241 pathologic Neuronal ceroid lipofuscinosis 7 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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