ClinVar Miner

Submissions for variant NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro)

dbSNP: rs143697995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882745 SCV002177038 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs143697995, ExAC 0.01%). This sequence change replaces leucine with proline at codon 156 of the MRPL44 protein (p.Leu156Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant has not been reported in the literature in individuals with MRPL44-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Leu156 amino acid residue in MRPL44. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23315540, 25797485). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
OMIM RCV001650515 SCV001870407 pathogenic Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 2021-09-13 no assertion criteria provided literature only

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