ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1412A>G (p.Lys471Arg)

gnomAD frequency: 0.00002  dbSNP: rs772128142
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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 RCV002011355 SCV002299917 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 471 of the NDUFS1 protein (p.Lys471Arg). This variant is present in population databases (rs772128142, gnomAD 0.005%). 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: 1509873). 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) performed at Invitae indicates that this missense variant is not expected to disrupt NDUFS1 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.
Ambry Genetics RCV004641884 SCV005144865 uncertain significance Inborn genetic diseases 2024-06-02 criteria provided, single submitter clinical testing The c.1412A>G (p.K471R) alteration is located in exon 14 (coding exon 13) of the NDUFS1 gene. This alteration results from a A to G substitution at nucleotide position 1412, causing the lysine (K) at amino acid position 471 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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