ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser)

gnomAD frequency: 0.00003  dbSNP: rs372730352
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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 RCV001966015 SCV002246135 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-10-30 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DAG1-related conditions. This variant is present in population databases (rs372730352, ExAC 0.02%). This sequence change replaces proline with serine at codon 616 of the DAG1 protein (p.Pro616Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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