ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr) (rs200883952)

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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 RCV000680085 SCV000807525 uncertain significance Microcephaly, short stature, and polymicrogyria with or without seizures 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 3-year-old female with microcephaly, craniosynostosis, dysmorphisms, fused labia, absence seizures, failure to thrive
Invitae RCV001067324 SCV001232378 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1725 of the RTTN protein (p.Lys1725Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is present in population databases (rs200883952, ExAC 0.01%). This variant has been observed in an individual affected with RTTN-related conditions (PMID: 25326635). ClinVar contains an entry for this variant (Variation ID: 561099). 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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