ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)

gnomAD frequency: 0.00001  dbSNP: rs1294150954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617665 SCV000738073 uncertain significance Cardiovascular phenotype 2023-09-28 criteria provided, single submitter clinical testing The p.R549C variant (also known as c.1645C>T), located in coding exon 6 of the KCND3 gene, results from a C to T substitution at nucleotide position 1645. The arginine at codon 549 is replaced by cysteine, an amino acid with highly dissimilar 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.
GeneDx RCV002510932 SCV002820817 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223411 SCV003919003 likely pathogenic Neurodevelopmental delay 2023-04-20 criteria provided, single submitter research

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