ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003536276 SCV004364790 likely benign MEGF8-related Carpenter syndrome 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366489 SCV004905353 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.5354G>A (p.R1785H) alteration is located in exon 31 (coding exon 31) of the MEGF8 gene. This alteration results from a G to A substitution at nucleotide position 5354, causing the arginine (R) at amino acid position 1785 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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