Submissions for variant NM_012064.4(MIP):c.97C>T (p.Arg33Cys)

dbSNP: rs864309693

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001390816	SCV001592664	pathogenic	Cataract 15 multiple types	2020-11-05	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect MIP protein function (PMID: 24120416). This variant has been observed in individual(s) with congenital cataracts (PMID: 26694549, 29770612). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 217342). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 33 of the MIP protein (p.Arg33Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.
Genetics Department, University Hospital of Toulouse	RCV002512064	SCV002822863	pathogenic	Persistent hyperplastic primary vitreous	2023-01-17	criteria provided, single submitter	clinical testing
Eye Genetics Research Group, Children's Medical Research Institute	RCV000203320	SCV000256024	pathogenic	Developmental cataract	2015-01-09	no assertion criteria provided	research