ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr)

gnomAD frequency: 0.00006  dbSNP: rs757924699
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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 RCV001910333 SCV002191214 uncertain significance MEGF8-related Carpenter syndrome 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1871 of the MEGF8 protein (p.His1871Tyr). This variant is present in population databases (rs757924699, gnomAD 0.008%). 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: 1419413). 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.
Ambry Genetics RCV002557814 SCV003713729 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.5611C>T (p.H1871Y) alteration is located in exon 32 (coding exon 32) of the MEGF8 gene. This alteration results from a C to T substitution at nucleotide position 5611, causing the histidine (H) at amino acid position 1871 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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