ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)

gnomAD frequency: 0.00385  dbSNP: rs147312193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439404 SCV000516989 benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084113 SCV000627076 benign Leigh syndrome 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586110 SCV000698185 likely benign not provided 2017-02-17 criteria provided, single submitter clinical testing Variant summary: The c.883C>T (p.Arg295Cys) in SURF1 gene is a missense change that involves a non-conserved nucleotide and 2/4 in silico tools predict benign outcome. The variant is located outside of any known functional domain and no functional studies confirming deleterious effect of this change have been reported at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.001516 (173/114150 chrs tested), predominantly in individuals of African descent (0.01761; 166/9424 chrs tested, including 2 homozygotes. The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.00176. The variant is present in a control population dataset of gnomAD at a frequency of 0.001517 (428/282054 chrs), mainly in individuals of African origin: 0.015 (406/25770 chrs, including 7 homozygotes). This data suggest that the variant of interest may be an ethnic-specific polymorphism. The variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taking together, the variant was classified as Likely Benign.
PreventionGenetics, part of Exact Sciences RCV003912641 SCV004737052 benign SURF1-related condition 2019-04-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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