ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.243C>G (p.Phe81Leu)

gnomAD frequency: 0.00003  dbSNP: rs373382346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751869 SCV001986534 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001861068 SCV002183110 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 81 of the POMGNT2 protein (p.Phe81Leu). This variant is present in population databases (rs373382346, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1304102). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POMGNT2 protein function. 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.
Ambry Genetics RCV002538768 SCV003733389 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.243C>G (p.F81L) alteration is located in exon 2 (coding exon 1) of the POMGNT2 gene. This alteration results from a C to G substitution at nucleotide position 243, causing the phenylalanine (F) at amino acid position 81 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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