ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.907G>A (p.Asp303Asn)

gnomAD frequency: 0.00001  dbSNP: rs557746011
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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 RCV002921565 SCV003674263 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.907G>A (p.D303N) alteration is located in exon 7 (coding exon 6) of the MBOAT7 gene. This alteration results from a G to A substitution at nucleotide position 907, causing the aspartic acid (D) at amino acid position 303 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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