ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp)

gnomAD frequency: 0.00004  dbSNP: rs761650726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994925 SCV001148748 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427444 SCV002679291 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.R28W variant (also known as c.82C>T), located in coding exon 2 of the ACVRL1 gene, results from a C to T substitution at nucleotide position 82. The arginine at codon 28 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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