ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.37T>G (p.Ser13Ala)

dbSNP: rs2089855148
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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 RCV001035394 SCV001198719 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2021-07-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with POMGNT2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 13 of the POMGNT2 protein (p.Ser13Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine.

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