ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr)

gnomAD frequency: 0.00014  dbSNP: rs373631162
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222716 SCV001394831 uncertain significance MEGF8-related Carpenter syndrome 2023-09-13 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 950903). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1084 of the MEGF8 protein (p.Ala1084Thr). This variant is present in population databases (rs373631162, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions.

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