ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)

dbSNP: rs1562173313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Genetics Institute, Rambam Health Care Campus RCV000684833 SCV000787750 pathogenic Cardiomyopathy, mitochondrial 2018-05-13 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002531385 SCV003459798 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 559416). This missense change has been observed in individual(s) with combined oxidative phosphorylation deficiency (PMID: 30283131). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 427 of the QRSL1 protein (p.Ala427Leu).
OMIM RCV001035460 SCV001198787 pathogenic Combined oxidative phosphorylation deficiency 40 2020-04-11 no assertion criteria provided literature only

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