ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)

gnomAD frequency: 0.00010  dbSNP: rs148498470
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485011 SCV000573489 uncertain significance not provided 2020-07-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002475953 SCV000894881 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 2022-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817043 SCV000957579 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 119 of the POMGNT1 protein (p.Val119Met). This variant is present in population databases (rs148498470, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 423754). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics RCV000485011 SCV001145189 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525949 SCV003681699 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.355G>A (p.V119M) alteration is located in exon 5 (coding exon 4) of the POMGNT1 gene. This alteration results from a G to A substitution at nucleotide position 355, causing the valine (V) at amino acid position 119 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829385 SCV002090228 uncertain significance Muscle eye brain disease 2020-03-15 no assertion criteria provided clinical testing

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