ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.134C>T (p.Pro45Leu)

dbSNP: rs753037500
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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 RCV001043664 SCV001207422 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2021-08-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819758 SCV002069531 uncertain significance not specified 2019-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259047 SCV003983820 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.134C>T (p.P45L) alteration is located in exon 1 (coding exon 1) of the POMT2 gene. This alteration results from a C to T substitution at nucleotide position 134, causing the proline (P) at amino acid position 45 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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