ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002753597 SCV003753945 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.2753C>T (p.A918V) alteration is located in exon 26 (coding exon 26) of the LRPPRC gene. This alteration results from a C to T substitution at nucleotide position 2753, causing the alanine (A) at amino acid position 918 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135273 SCV003812765 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-08-02 criteria provided, single submitter clinical testing

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