ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) (rs750453909)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008868 SCV001168673 likely pathogenic not provided 2018-08-23 criteria provided, single submitter clinical testing The c.2210_2213delAAGA variant in the POMT1 gene has been reported previously in the homozygous state in an individual with congenital muscular dystrophy with intellectual disability (Sframeli et al., 2017). This variant causes a frameshift starting with codon Lysine 737, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Lys737ThrfsX6. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 11 amino acids are lost and replaced with 5 incorrect amino acids. This frameshift variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2210_2213delAAGA as a likely pathogenic variant.

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