ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.983_996delinsAGG (p.Ala328fs)

dbSNP: rs1572362631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009060 SCV001168870 likely pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The c.983_996del14insAGG variant in the LMNA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.983_996del14insAGG variant causes a frameshift starting with codon Alanine 328, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 94 of the new reading frame, denoted p.Ala328GlufsX94. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.983_996del14insAGG variant is not observed in large population cohorts (Lek et al., 2016). Based on the ACMG recommendations, c.983_996del14insAGG is interpreted as an expected pathogenic sequence change.

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