ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser)

gnomAD frequency: 0.00017  dbSNP: rs145615218
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224641 SCV000281561 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000631403 SCV000752474 uncertain significance Leigh syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 117 of the SURF1 protein (p.Tyr117Ser). This variant is present in population databases (rs145615218, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SURF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 235744). 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 expected to disrupt SURF1 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.
CeGaT Center for Human Genetics Tuebingen RCV000224641 SCV001500575 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224641 SCV004225133 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing PP3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224641 SCV001740075 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224641 SCV001797788 uncertain significance not provided no assertion criteria provided clinical testing

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