ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.778G>A (p.Ala260Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490883 SCV004241444 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing Variant summary: MID1 c.778G>A (p.Ala260Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.7e-05 in 183106 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in MID1 causing Opitz G/BBB syndrome (8.7e-05 vs 0.0025), allowing no conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003549113 SCV004275140 benign not provided 2024-10-21 criteria provided, single submitter clinical testing

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