ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu)

gnomAD frequency: 0.00002  dbSNP: rs747343582
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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 RCV001203680 SCV001374854 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 727 of the POMT1 protein (p.Ser727Leu). This variant is present in population databases (rs747343582, gnomAD 0.07%). 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: 935152). 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 RCV004659386 SCV005149044 uncertain significance Inborn genetic diseases 2024-05-12 criteria provided, single submitter clinical testing The c.2180C>T (p.S727L) alteration is located in exon 20 (coding exon 19) of the POMT1 gene. This alteration results from a C to T substitution at nucleotide position 2180, causing the serine (S) at amino acid position 727 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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