ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)

gnomAD frequency: 0.00011  dbSNP: rs200910137
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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 RCV001207829 SCV001379196 uncertain significance MEGF8-related Carpenter syndrome 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 93 of the MEGF8 protein (p.Ser93Cys). This variant is present in population databases (rs200910137, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 938580). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002561666 SCV003677225 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.278C>G (p.S93C) alteration is located in exon 2 (coding exon 2) of the MEGF8 gene. This alteration results from a C to G substitution at nucleotide position 278, causing the serine (S) at amino acid position 93 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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