ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser)

gnomAD frequency: 0.00011  dbSNP: rs376471064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502728 SCV000596538 uncertain significance not specified 2015-08-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729149 SCV000856791 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865619 SCV002284000 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 314 of the POMT1 protein (p.Thr314Ser). This variant is present in population databases (rs376471064, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002524271 SCV003536923 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.941C>G (p.T314S) alteration is located in exon 10 (coding exon 9) of the POMT1 gene. This alteration results from a C to G substitution at nucleotide position 941, causing the threonine (T) at amino acid position 314 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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