ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)

gnomAD frequency: 0.00005  dbSNP: rs370715026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336514 SCV001529916 uncertain significance Charcot-Marie-Tooth disease type 4B3 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001508028 SCV001713924 uncertain significance not provided 2020-07-30 criteria provided, single submitter clinical testing
Invitae RCV001508028 SCV002258305 uncertain significance not provided 2022-06-27 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 1612 of the SBF1 protein (p.Val1612Met). This variant is present in population databases (rs370715026, gnomAD 0.009%). 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: 1033958). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002546781 SCV003529199 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.4834G>A (p.V1612M) alteration is located in exon 36 (coding exon 36) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 4834, causing the valine (V) at amino acid position 1612 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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