ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) (rs267607235)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720090 SCV000850966 likely pathogenic Seizures 2016-04-11 criteria provided, single submitter clinical testing Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous;Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000001060 SCV001227174 pathogenic Neuronal ceroid lipofuscinosis 7 2019-06-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 412 of the MFSD8 protein (p.Pro412Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs267607235, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of neuronal ceroid lipofuscinosis (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been observed to segregate with neuronal ceroid lipofuscinosis in a family (PMID: 19277732). ClinVar contains an entry for this variant (Variation ID: 1005). This variant has been reported to affect MFSD8 protein function (PMID:22668694). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001060 SCV000021210 pathogenic Neuronal ceroid lipofuscinosis 7 2009-10-01 no assertion criteria provided literature only

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