ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.3765del (p.Cys1256fs) (rs147976828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008828 SCV001168631 pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing The c.3765delC variant in the MED13L gene has been reported previously as an apparently de novo variant in an individual with developmental delay, severe speech impairment, hypotonia, ataxia, cleft palate, club foot, hearing loss, dysmorphic features, and history of acute lymphoblastic leukemia (Cafiero et al., 2015). The c.3765delC variant causes a frameshift starting with codon Cysteine 1256, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Cys1256ValfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3765delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3765delC as a pathogenic variant.
OMIM RCV000207262 SCV000262636 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2021-07-21 no assertion criteria provided literature only

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