ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) (rs727502800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tim Yu lab,Boston Children's Hospital RCV000149774 SCV000928331 pathogenic Neuronal ceroid lipofuscinosis 7 2019-07-19 criteria provided, single submitter clinical testing The MFSD8 c.1102C>G variant was found in a patient with a clinical phenotype consistent with classical CLN7 Batten disease. This variant has been previously reported in patients with Batten disease. It results in a missense change (p.D368H) and has also been reported to cause skipping of exon 11 (Sintola et al, 2007; Roosing et al, 2015). It is absent from gnomAD.
OMIM RCV000149774 SCV000196587 pathogenic Neuronal ceroid lipofuscinosis 7 2015-01-01 no assertion criteria provided literature only
OMIM RCV000149775 SCV000196588 pathogenic Macular dystrophy with central cone involvement 2015-01-01 no assertion criteria provided literature only

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