ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) (rs267606960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411094 SCV000487167 likely pathogenic Muscle eye brain disease 2016-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763346 SCV000894031 pathogenic Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Retinitis pigmentosa 76 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000798530 SCV000938150 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 490 of the POMGNT1 protein (p.Cys490Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs267606960, ExAC 0.009%). This variant has been observed to segregate with muscle-eye-brain (MEB) disease in several families (PMID: 15466003). This variant has been observed in multiple individuals affected with congenital muscular dystrophy or MEB, and has also been reported in fetuses with cobblestone lissencephaly (PMID: 24282183, 15466003, 17030669, 17878207, 22323514, 17559086). ClinVar contains an entry for this variant (Variation ID: 4000). Experimental studies have shown that this missense change results in the loss of glycosyltransferase activity in vitro (PMID: 21361872). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004207 SCV000024373 pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2008-01-01 no assertion criteria provided literature only

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