ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu)

gnomAD frequency: 0.00019  dbSNP: rs139959427
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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 RCV001488398 SCV001692913 likely benign MEGF8-related Carpenter syndrome 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547276 SCV003703779 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.5291C>T (p.S1764L) alteration is located in exon 31 (coding exon 31) of the MEGF8 gene. This alteration results from a C to T substitution at nucleotide position 5291, causing the serine (S) at amino acid position 1764 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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