ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) (rs151081792)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000392852 SCV000419453 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303322 SCV000419454 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000824373 SCV000965269 uncertain significance Lethal multiple pterygium syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 432 of the CHRNA1 protein (p.Gly432Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs151081792, ExAC 0.03%). This variant has not been reported in the literature in individuals with CHRNA1-related disease. ClinVar contains an entry for this variant (Variation ID: 332436). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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