ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)

gnomAD frequency: 0.00011  dbSNP: rs200535361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499560 SCV000596519 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing
Invitae RCV000549555 SCV000652768 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 337 of the POMGNT2 protein (p.Asn337Ser). This variant is present in population databases (rs200535361, gnomAD 0.03%). 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: 436367). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV001696975 SCV000715952 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001696975 SCV003811783 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159630 SCV003864190 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.1010A>G (p.N337S) alteration is located in exon 2 (coding exon 1) of the POMGNT2 gene. This alteration results from a A to G substitution at nucleotide position 1010, causing the asparagine (N) at amino acid position 337 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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