ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.626C>T (p.Thr209Met)

gnomAD frequency: 0.00004  dbSNP: rs771878661
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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 RCV000617249 SCV000737890 uncertain significance Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing The p.T209M variant (also known as c.626C>T), located in coding exon 1 of the KCND3 gene, results from a C to T substitution at nucleotide position 626. The threonine at codon 209 is replaced by methionine, an amino acid with some similar properties. This amino acid position is not well 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.
Revvity Omics, Revvity RCV003129942 SCV003813996 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091773 SCV005835201 likely benign Spinocerebellar ataxia type 19/22 2024-12-12 criteria provided, single submitter clinical testing

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