ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)

dbSNP: rs797045023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224389 SCV001396581 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 669 of the DAG1 protein (p.Cys669Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with muscle-eye-brain disease in a family (PMID: 24052401). ClinVar contains an entry for this variant (Variation ID: 208542). This variant has been reported to affect DAG1 protein function (PMID: 29134705). 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.
Revvity Omics, Revvity RCV001781562 SCV002024021 likely pathogenic not provided 2021-08-11 criteria provided, single submitter clinical testing
OMIM RCV000190547 SCV000245428 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2013-11-01 no assertion criteria provided literature only

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