ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.2734A>T (p.Ile912Phe)

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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 RCV005378834 SCV006040632 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The c.2734A>T (p.I912F) alteration is located in exon 21 (coding exon 21) of the NBEA gene. This alteration results from a A to T substitution at nucleotide position 2734, causing the isoleucine (I) at amino acid position 912 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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