ClinVar Miner

Submissions for variant NM_001388306.1(MIDN):c.1483G>A (p.Val495Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005377657 SCV006032538 uncertain significance not specified 2025-02-20 criteria provided, single submitter clinical testing The c.1354G>A (p.V452M) alteration is located in exon 8 (coding exon 7) of the MIDN gene. This alteration results from a G to A substitution at nucleotide position 1354, causing the valine (V) at amino acid position 452 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genetics and Genomics Program, Sidra Medicine RCV004733988 SCV005367913 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.1354G>A missense variant in MIDN is present in gnomAD with an allele count of 6 and no homozygous individuals reported (PM2). It is present in our patient and his affected brother. SIFT predictions indicate an uncertain impact (0.008). ACMG codes: PM1, PM2.

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