ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.293C>T (p.Ala98Val)

gnomAD frequency: 0.00006  dbSNP: rs200871775
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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 RCV001943116 SCV002183403 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 98 of the DAG1 protein (p.Ala98Val). This variant is present in population databases (rs200871775, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of DAG1-related conditions (PMID: 30919572). 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. 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.

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