ClinVar Miner

Submissions for variant NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu)

gnomAD frequency: 0.00004  dbSNP: rs774928119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336087 SCV001529383 uncertain significance Intellectual disability, autosomal recessive 57 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546761 SCV003731176 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.1366A>G (p.K456E) alteration is located in exon 8 (coding exon 7) of the MBOAT7 gene. This alteration results from a A to G substitution at nucleotide position 1366, causing the lysine (K) at amino acid position 456 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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