ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.485del (p.Phe162fs) (rs1250351189)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608987 SCV000712821 likely pathogenic Walker-Warburg congenital muscular dystrophy 2017-03-02 criteria provided, single submitter clinical testing The p.Phe162SerfsX10 (NM007171.3 c.485delT) variant in POMT1 has not been report ed in individuals with POMT1-related muscular dystrophy-dystroglycanopathies. Th is variant has been identified in 1/8254 of European chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS). Although this variant has been seen in the general population, its frequency is low enough to be cons istent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 162 and leads to a premature termination codon 10 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function of the POMT1 gene has been associated with POMT1-related muscu lar dystrophy-dystroglycanopathies. In summary, although additional studies are required to fully establish a null effect, the p.Phe162SerfsX10 variant is likel y pathogenic for POMT1-related muscular dystrophy-dystroglycanopathies in an aut osomal recessive manner based upon its predicted impact on protein function.

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