ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser)

gnomAD frequency: 0.00016  dbSNP: rs199743727
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596476 SCV000709265 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042775 SCV001206477 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 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 441 of the POMT2 protein (p.Gly441Ser). This variant is present in population databases (rs199743727, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 502501). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POMT2 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.
Illumina Laboratory Services, Illumina RCV001116049 SCV001274073 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2N 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002531109 SCV003744301 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.1321G>A (p.G441S) alteration is located in exon 12 (coding exon 12) of the POMT2 gene. This alteration results from a G to A substitution at nucleotide position 1321, causing the glycine (G) at amino acid position 441 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000596476 SCV003809765 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing

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