ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser)

dbSNP: rs374639571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895386 SCV002156114 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1381493). This variant is present in population databases (rs374639571, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 389 of the POMGNT1 protein (p.Ala389Ser).

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