ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)

dbSNP: rs730880408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648302 SCV000770116 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 4 of the ACTC1 protein (p.Asp4Asn). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 538810). This variant has not been reported in the literature in individuals affected with ACTC1-related conditions.
Ambry Genetics RCV002424493 SCV002742833 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.D4N variant (also known as c.10G>A), located in coding exon 1 of the ACTC1 gene, results from a G to A substitution at nucleotide position 10. The aspartic acid at codon 4 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000648302 SCV002787315 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2021-07-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140039 SCV003822546 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing

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