ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) (rs397514544)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032805 SCV000820436 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2018-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 340 of the TMEM5 protein (p.Arg340Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with congenital muscular dystrophy-dystroglycanopathy (PMID: 23217329). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 39605). Experimental studies have shown that this missense change occurs abolishes TMEM5 xylosyltransferase activity in vitro (PMID: 27733679). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000032805 SCV000056573 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2012-12-07 no assertion criteria provided literature only

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