ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)

gnomAD frequency: 0.00051  dbSNP: rs200992827
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712837 SCV000702311 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648181 SCV000769995 likely benign 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 2024-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712837 SCV000843372 uncertain significance not provided 2017-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000712837 SCV001769570 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)
Fulgent Genetics, Fulgent Genetics RCV002476283 SCV002791735 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; 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 2022-05-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000712837 SCV003809727 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024714 SCV005008725 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.229G>A (p.D77N) alteration is located in exon 1 (coding exon 1) of the POMT2 gene. This alteration results from a G to A substitution at nucleotide position 229, causing the aspartic acid (D) at amino acid position 77 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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