ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2307C>G (p.Ile769Met)

gnomAD frequency: 0.00001  dbSNP: rs1319468242
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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 RCV001999560 SCV002291628 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-06-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 769 of the DAG1 protein (p.Ile769Met).
Ambry Genetics RCV002545453 SCV003564804 uncertain significance Inborn genetic diseases 2021-05-01 criteria provided, single submitter clinical testing The c.2307C>G (p.I769M) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a C to G substitution at nucleotide position 2307, causing the isoleucine (I) at amino acid position 769 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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