ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.3626A>G (p.Lys1209Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004652376 SCV005143300 uncertain significance Inborn genetic diseases 2024-04-22 criteria provided, single submitter clinical testing The c.3626A>G (p.K1209R) alteration is located in exon 22 (coding exon 22) of the NBEA gene. This alteration results from a A to G substitution at nucleotide position 3626, causing the lysine (K) at amino acid position 1209 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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