ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.746C>T (p.Ala249Val)

gnomAD frequency: 0.00102  dbSNP: rs146220085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527788 SCV000632259 likely benign Early myoclonic encephalopathy 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527715 SCV003676889 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.746C>T (p.A249V) alteration is located in exon 1 (coding exon 1) of the KCND2 gene. This alteration results from a C to T substitution at nucleotide position 746, causing the alanine (A) at amino acid position 249 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003935416 SCV004755105 likely benign KCND2-related disorder 2022-07-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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