ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) (rs556875684)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194054 SCV000248042 uncertain significance not specified 2015-07-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662085 SCV000784422 uncertain significance Neuronal ceroid lipofuscinosis 7 2018-03-05 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000662085 SCV000899111 uncertain significance Neuronal ceroid lipofuscinosis 7 2019-04-17 criteria provided, single submitter clinical testing The proband had a homozygous p.Ile312Thr variant in the MFSD8 gene. This variant has been reported in an Indian family with an autosomal recessive inheritance. The proband had abnormal gait, angular vision problem and features suggestive of cerebellar ataxia. MRI showed cerebellar atrophy. The variant has been reported in the dbSNP database with an identification number rs556875684 and in the Exome Aggregation Consortium (ExAC) database, as a rare variant. In-Silico prediction of the variant is damaging by LRT, PolyPhen2 and MutationTaster. In summary, the Ile312Thr variant meets our criteria to be classified as uncertain significance.

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