ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys)

gnomAD frequency: 0.00001  dbSNP: rs200789546
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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 RCV002050766 SCV002111718 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 275 of the POMGNT1 protein (p.Tyr275Cys). This variant is present in population databases (rs200789546, gnomAD 0.0009%). 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 RCV004038793 SCV005007235 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.824A>G (p.Y275C) alteration is located in exon 9 (coding exon 8) of the POMGNT1 gene. This alteration results from a A to G substitution at nucleotide position 824, causing the tyrosine (Y) at amino acid position 275 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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