ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) (rs772768716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680166 SCV000807640 uncertain significance Carpenter syndrome 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 1-year-old male with metopic craniosynostosis, global delays, dysmorphisms, short neck, inverted npples, structural brain anomalies, ptosis, strabismus, rocker bottom feet, adducted thumbs, contractures, cafe au lait macules. Heterozygotes would be expected to be asymptomatic carriers.
Invitae RCV000680166 SCV000812391 uncertain significance Carpenter syndrome 2 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2037 of the MEGF8 protein (p.Ala2037Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs772768716, ExAC 0.05%). This variant has not been reported in the literature in individuals with MEGF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 561156). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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