ClinVar Miner

Submissions for variant NM_004544.4(NDUFA10):c.976C>T (p.Arg326Cys)

dbSNP: rs762245412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918147 SCV002174396 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 326 of the NDUFA10 protein (p.Arg326Cys). This variant is present in population databases (rs762245412, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NDUFA10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1400345). Advanced 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 at Invitae 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 NDUFA10 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.
Baylor Genetics RCV003147697 SCV003836337 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 22 2022-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041744 SCV004976927 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.976C>T (p.R326C) alteration is located in exon 9 (coding exon 9) of the NDUFA10 gene. This alteration results from a C to T substitution at nucleotide position 976, causing the arginine (R) at amino acid position 326 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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