ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu)

gnomAD frequency: 0.00014  dbSNP: rs148207079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891080 SCV001034870 likely benign MEGF8-related Carpenter syndrome 2024-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540097 SCV003543448 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.2336C>T (p.S779L) alteration is located in exon 14 (coding exon 14) of the MEGF8 gene. This alteration results from a C to T substitution at nucleotide position 2336, causing the serine (S) at amino acid position 779 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004704275 SCV005208484 likely benign not provided criteria provided, single submitter not provided

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