ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2605G>A (p.Val869Met)

gnomAD frequency: 0.00033  dbSNP: rs200365973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415859 SCV000493536 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765656 SCV000896986 uncertain significance Charcot-Marie-Tooth disease type 4B3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000415859 SCV002274496 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 869 of the SBF1 protein (p.Val869Met). This variant is present in population databases (rs200365973, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SBF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374671). 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 SBF1 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 RCV004022187 SCV003616420 uncertain significance not specified 2021-07-15 criteria provided, single submitter clinical testing The c.2605G>A (p.V869M) alteration is located in exon 21 (coding exon 21) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 2605, causing the valine (V) at amino acid position 869 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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