ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.350C>T (p.Ser117Leu)

gnomAD frequency: 0.00004  dbSNP: rs201840025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333056 SCV001525541 uncertain significance Microcephalic primordial dwarfism due to RTTN deficiency 2019-10-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001859305 SCV002204698 uncertain significance not provided 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 117 of the RTTN protein (p.Ser117Leu). This variant is present in population databases (rs201840025, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RTTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031272). 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.

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