ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)

dbSNP: rs121909530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000019952 SCV001934390 likely pathogenic Congenital myopathy with fiber type disproportion 2021-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851954 SCV002226844 uncertain significance Actin accumulation myopathy 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 223 of the ACTA1 protein (p.Leu223Pro). 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. Experimental studies have shown that this missense change affects ACTA1 function (PMID: 19206168). 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 not expected to disrupt ACTA1 protein function. ClinVar contains an entry for this variant (Variation ID: 18290). This variant is also known as p.Leu221Pro. This missense change has been observed in individual(s) with congenital fibre type disproportion (PMID: 15468086). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV003151735 SCV000040250 pathogenic Congenital myopathy 2c, severe infantile, autosomal dominant 2004-11-01 no assertion criteria provided literature only
GeneReviews RCV000019952 SCV000058544 not provided Congenital myopathy with fiber type disproportion no assertion provided literature only

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