ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1602G>A (p.Lys534=) (rs1556834513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658058 SCV000779829 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing The c.1602 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. A different nucleotide substitution at the same position (c.1602 G>T) has reported in an individual with Becker muscular dystrophy (Hagiwara et al., 1994). The c.1602 G>A nucleotide change results in a synonymous amino acid substitution denoted p.Lys534=. Multiple in silico algorithms predict c.1602 G>A destroys the natural splice donor site of intron 13 and leads to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of c.1602 G>A on splicing in this individual is unknown. This variant is not observed in large population cohorts (Lek et al., 2016).

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