ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu)

dbSNP: rs745996964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242722 SCV001415828 uncertain significance Luscan-Lumish syndrome 2019-10-15 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SETD2-related conditions. This variant is present in population databases (rs745996964, ExAC 0.001%). This sequence change replaces proline with leucine at codon 2160 of the SETD2 protein (p.Pro2160Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV002564041 SCV003556185 uncertain significance Inborn genetic diseases 2021-06-08 criteria provided, single submitter clinical testing The c.6479C>T (p.P2160L) alteration is located in exon 15 (coding exon 15) of the SETD2 gene. This alteration results from a C to T substitution at nucleotide position 6479, causing the proline (P) at amino acid position 2160 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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