ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) (rs119466000)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003257 SCV000792743 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV000796281 SCV000935787 pathogenic not provided 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 354 of the LRPPRC protein (p.Ala354Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs119466000, ExAC 0.007%). This variant has been described as a founder variant for Leigh syndrome in the French-Canadian population (PMID: 12529507, 21266382). ClinVar contains an entry for this variant (Variation ID: 3110). Experimental studies have shown that this missense change reduces LRPPRC protein trafficking to mitochondria (PMID: 15139850). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003257 SCV000023415 pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2003-01-21 no assertion criteria provided literature only

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