ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala)

gnomAD frequency: 0.00003  dbSNP: rs769167029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332550 SCV001524912 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2019-11-22 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 RCV002546578 SCV002967834 uncertain significance not provided 2022-06-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 441 of the NDUFS1 protein (p.Thr441Ala). This variant is present in population databases (rs769167029, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NDUFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030868). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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