ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1279G>A (p.Val427Ile)

gnomAD frequency: 0.00001  dbSNP: rs755985917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001281559 SCV001468869 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375324 SCV002690766 uncertain significance Inborn genetic diseases 2018-02-27 criteria provided, single submitter clinical testing The p.V427I variant (also known as c.1279G>A), located in coding exon 6 of the MID1 gene, results from a G to A substitution at nucleotide position 1279. The valine at codon 427 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001281559 SCV004371749 benign not provided 2023-08-29 criteria provided, single submitter clinical testing

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