ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.320G>A (p.Arg107Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131585 SCV003808775 uncertain significance MEGF8-related Carpenter syndrome 2022-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004636712 SCV005131039 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.320G>A (p.R107Q) alteration is located in exon 2 (coding exon 2) of the MEGF8 gene. This alteration results from a G to A substitution at nucleotide position 320, causing the arginine (R) at amino acid position 107 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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