ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1619G>A (p.Ser540Asn)

dbSNP: rs773811434
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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 RCV001917934 SCV002170736 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-11-29 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. 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 MTO1 protein function. ClinVar contains an entry for this variant (Variation ID: 1399941). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is present in population databases (rs773811434, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 540 of the MTO1 protein (p.Ser540Asn).
Ambry Genetics RCV003167050 SCV003907050 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1739G>A (p.S580N) alteration is located in exon 10 (coding exon 10) of the MTO1 gene. This alteration results from a G to A substitution at nucleotide position 1739, causing the serine (S) at amino acid position 580 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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