ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.4654C>T (p.Arg1552Trp)

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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 RCV004959351 SCV005455233 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.4654C>T (p.R1552W) alteration is located in exon 28 (coding exon 28) of the NBEA gene. This alteration results from a C to T substitution at nucleotide position 4654, causing the arginine (R) at amino acid position 1552 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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