ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) (rs373908553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523785 SCV000618079 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing The N418T variant in the LRPPRC gene has been reported previously in an individual with a lethal infantile mitochondrial disorder who was heterozygous for N418T and another LRPPRC variant, however segregation information was not provided (Kohda et al., 2016). The N418T variant is observed in 6/9836 (0.06%) alleles from individuals of Ashkenazi Jewish background, in the gnomAD dataset (Lek et al., 2016). The N418T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N418T as a variant of uncertain significance.
Counsyl RCV000667875 SCV000792387 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-06-22 criteria provided, single submitter clinical testing

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