ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)

gnomAD frequency: 0.00001  dbSNP: rs375845761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044346 SCV001208137 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 384 of the POMGNT1 protein (p.Pro384Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs375845761, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003132164 SCV003811745 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827272 SCV002089609 uncertain significance Muscle eye brain disease 2021-03-23 no assertion criteria provided clinical testing

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