ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met)

gnomAD frequency: 0.00002  dbSNP: rs775983100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219680 SCV001391630 uncertain significance MEGF10-related myopathy 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 932 of the MEGF10 protein (p.Thr932Met). This variant is present in population databases (rs775983100, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. ClinVar contains an entry for this variant (Variation ID: 948426). 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: "Probably 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 RCV002562482 SCV003703778 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2795C>T (p.T932M) alteration is located in exon 22 (coding exon 20) of the MEGF10 gene. This alteration results from a C to T substitution at nucleotide position 2795, causing the threonine (T) at amino acid position 932 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003486967 SCV003810947 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing

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