ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.844G>A (p.Ala282Thr)

gnomAD frequency: 0.00004  dbSNP: rs146900529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000404191 SCV000343101 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331334 SCV001523357 uncertain significance Hearing loss, autosomal recessive 94 2019-11-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000404191 SCV003486566 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 282 of the NARS2 protein (p.Ala282Thr). This variant is present in population databases (rs146900529, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 288867). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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