ClinVar Miner

Submissions for variant NM_015971.4(MRPS7):c.550A>G (p.Met184Val)

gnomAD frequency: 0.00067  dbSNP: rs115047866
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000579388 SCV000787465 likely pathogenic Combined oxidative phosphorylation deficiency 34 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Combined oxidative phosphorylation deficiency 34, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:25556185). PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:25556185).
Baylor Genetics RCV000579388 SCV001522451 likely pathogenic Combined oxidative phosphorylation deficiency 34 2024-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860020 SCV002290054 uncertain significance not provided 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 184 of the MRPS7 protein (p.Met184Val). This variant is present in population databases (rs115047866, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with congenital sensorineural deafness and significant hepatic and renal impairment (PMID: 25556185). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 489402). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MRPS7 protein function. Studies have shown that this missense change alters MRPS7 gene expression (PMID: 25556185). 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252171 SCV002523625 likely pathogenic See cases 2020-04-02 criteria provided, single submitter clinical testing ACMG classification criteria: PS3, PS4, PM2, PM3, PP1
Fulgent Genetics, Fulgent Genetics RCV000579388 SCV005650672 uncertain significance Combined oxidative phosphorylation deficiency 34 2023-12-22 criteria provided, single submitter clinical testing
OMIM RCV000579388 SCV000681420 pathogenic Combined oxidative phosphorylation deficiency 34 2018-02-12 no assertion criteria provided literature only

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