ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)

dbSNP: rs762254417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627493 SCV000748493 likely pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing The c.3566dupA variant in the LRPPRC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Asparagine 1190, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Asn1190GlufsX2. The c.3566dupA variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.3566dupA as a likely pathogenic variant.
Baylor Genetics RCV003465367 SCV004191123 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2022-03-30 criteria provided, single submitter clinical testing

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