ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile)

dbSNP: rs761809949
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206203 SCV001377500 uncertain significance MEGF8-related Carpenter syndrome 2021-12-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 937232). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1662 of the MEGF8 protein (p.Met1662Ile).

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