ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1036del (p.Val346fs) (rs1439582451)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531910 SCV000639418 pathogenic Neuronal ceroid lipofuscinosis 7 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val346Leufs*68) in the MFSD8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MFSD8-related disease. ClinVar contains an entry for this variant (Variation ID: 464776). Loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001009177 SCV001168994 likely pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The c.1036delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1036delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.1036delG variant causes a frameshift starting with codon Valine 346, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 68 of the new reading frame, denoted p.Val346LeufsX68. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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