ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.49C>A (p.Pro17Thr)

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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 RCV004984519 SCV005618248 uncertain significance Inborn genetic diseases 2024-12-07 criteria provided, single submitter clinical testing The c.49C>A (p.P17T) alteration is located in exon 2 (coding exon 1) of the MBOAT7 gene. This alteration results from a C to A substitution at nucleotide position 49, causing the proline (P) at amino acid position 17 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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