Submissions for variant NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) (rs143631464)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231032	SCV000289888	uncertain significance	CHARGE association	2019-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 619 of the SEMA3E protein (p.Arg619Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs143631464, ExAC 0.02%). This variant has been reported in two brothers with Kallmann syndrome (PMID: 25985275) and an individual with CHARGE syndrome, who inherited the variant from an unaffected parent (PMID: 15235037). ClinVar contains an entry for this variant (Variation ID: 221681). Experimental studies have shown that this missense change disrupts the ability of the protein to prevent cell death in cultured neurons (PMID: 25985275). 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	RCV000207418	SCV000262695	uncertain significance	not provided	2016-02-09	no assertion criteria provided	literature only

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