ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.808G>A (p.Glu270Lys)

gnomAD frequency: 0.00001  dbSNP: rs781924765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631404 SCV000752475 uncertain significance Leigh syndrome 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 270 of the SURF1 protein (p.Glu270Lys). This variant is present in population databases (rs781924765, gnomAD 0.007%). 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: 526789). 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.
Ambry Genetics RCV002533180 SCV003581774 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.808G>A (p.E270K) alteration is located in exon 8 (coding exon 8) of the SURF1 gene. This alteration results from a G to A substitution at nucleotide position 808, causing the glutamic acid (E) at amino acid position 270 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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