ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)

dbSNP: rs6659553
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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 RCV001245091 SCV001418356 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 623 of the POMGNT1 protein (p.Val623Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691396 SCV005186685 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001835222 SCV002089579 uncertain significance Muscle eye brain disease 2020-07-16 no assertion criteria provided clinical testing

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