Submissions for variant NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)

dbSNP: rs556875684

Total submissions: 4

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.
Ambry Genetics	RCV002517099	SCV003633128	uncertain significance	Inborn genetic diseases	2022-06-24	criteria provided, single submitter	clinical testing	The c.935T>C (p.I312T) alteration is located in exon 10 (coding exon 9) of the MFSD8 gene. This alteration results from a T to C substitution at nucleotide position 935, causing the isoleucine (I) at amino acid position 312 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.