ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) (rs140268343)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678786 SCV000804966 uncertain significance Juvenile myoclonic epilepsy 2017-01-12 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380558 SCV000419487 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285191 SCV000419488 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543342 SCV000641701 uncertain significance Lethal multiple pterygium syndrome 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 107 of the CHRNA1 protein (p.Arg107Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs140268343, ExAC 0.03%). This variant has not been reported in the literature in individuals with a CHRNA1-related disease. ClinVar contains an entry for this variant (Variation ID: 332448). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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