ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)

gnomAD frequency: 0.00001  dbSNP: rs199422225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000015300 SCV001524918 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2020-02-06 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 RCV002513059 SCV003524969 uncertain significance not provided 2022-03-09 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 14232). This missense change has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 11349233). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 241 of the NDUFS1 protein (p.Arg241Trp).
OMIM RCV000015300 SCV000035559 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2001-06-01 no assertion criteria provided literature only

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