ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.193C>T (p.Gln65Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Igenomix - Part of Vitrolife Group, Igenomix RCV004691653 SCV005187256 likely pathogenic Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement criteria provided, single submitter clinical testing The MFSD8 variant (NM_001371596.2:c.193C>T, p.Gln65Ter) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease (PVS1). Truncations downstream of this position have been classified as pathogenic. This variant is absent in the gnomAD v4.1.0 (PM2). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Based on the evidence outlined above, the variant was classified as likely pathogenic. This variant was detected in the heterozygous state through carrier screening.

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