ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)

dbSNP: rs137852809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000020056 SCV004292651 uncertain significance Lethal multiple pterygium syndrome 2023-06-05 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHRNA1 protein function. ClinVar contains an entry for this variant (Variation ID: 18388). This variant is also known as R234L. This missense change has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 18252226). This variant is present in population databases (rs137852809, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 229 of the CHRNA1 protein (p.Arg229Leu).
OMIM RCV000020056 SCV000040354 pathogenic Lethal multiple pterygium syndrome 2008-02-01 no assertion criteria provided literature only

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