ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val)

dbSNP: rs150607375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527674 SCV000652878 likely benign MEGF8-related Carpenter syndrome 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530218 SCV003612742 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.5080C>G (p.L1694V) alteration is located in exon 29 (coding exon 29) of the MEGF8 gene. This alteration results from a C to G substitution at nucleotide position 5080, causing the leucine (L) at amino acid position 1694 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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