ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.699+14T>A

gnomAD frequency: 0.00002  dbSNP: rs370038491
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712828 SCV000843363 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV001861981 SCV002165088 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 238 of the POMT1 protein (p.Val238Asp). This variant is present in population databases (rs370038491, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586371). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002534511 SCV003730882 uncertain significance Inborn genetic diseases 2022-08-03 criteria provided, single submitter clinical testing The c.713T>A (p.V238D) alteration is located in exon 8 (coding exon 7) of the POMT1 gene. This alteration results from a T to A substitution at nucleotide position 713, causing the valine (V) at amino acid position 238 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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