ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060724 SCV003455332 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-01 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 313 of the POMGNT1 protein (p.Asn313Ser). This variant is present in population databases (rs557175651, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. 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 POMGNT1 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 RCV004070421 SCV005007237 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.938A>G (p.N313S) alteration is located in exon 10 (coding exon 9) of the POMGNT1 gene. This alteration results from a A to G substitution at nucleotide position 938, causing the asparagine (N) at amino acid position 313 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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