ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.313_314del (p.Pro105fs)

dbSNP: rs1352532055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008519 SCV001168291 likely pathogenic not provided 2019-01-09 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the LAMB1 gene. The c.313_314delCC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.313_314delCC variant in the LAMB1 gene causes a frameshift starting with codon Proline 105, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Pro105LysfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.313_314delCC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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