ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.1072C>T (p.Arg358Trp) (rs374391312)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803477 SCV000943350 uncertain significance Lethal multiple pterygium syndrome 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 333 of the CHRNA1 protein (p.Arg333Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs374391312, ExAC 0.008%). This variant has been observed in combination with another CHRNA1 variant in an individual affected with congenital myasthenic syndrome (PMID: 18806275). This variant is also known as c.937C>T (p.Arg313Trp) in the literature. Experimental studies have shown that this missense change results in reduced protein expression and exhibits mild fast-channel properties (PMID: 18806275). 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 RCV000022418 SCV000043707 pathogenic Congenital myasthenic syndrome 1B, fast-channel 2008-12-15 no assertion criteria provided literature only

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