ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3148+2C>T

dbSNP: rs1553396068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672540 SCV000797653 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-02-12 criteria provided, single submitter clinical testing
Invitae RCV002532126 SCV002994385 uncertain significance not provided 2022-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 29 of the LRPPRC gene. It does not directly change the encoded amino acid sequence of the LRPPRC protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRPPRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 556521). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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