ClinVar Miner

Submissions for variant NM_006384.4(CIB1):c.407C>T (p.Thr136Met)

gnomAD frequency: 0.00004  dbSNP: rs368617389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028692 SCV002292220 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 176 of the CIB1 protein (p.Thr176Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs368617389, ExAC 0.009%). This variant has not been reported in the literature in individuals with CIB1-related conditions. 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: "Not Available"; Align-GVGD: "Class C65"). 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 RCV004046114 SCV003586709 uncertain significance not specified 2021-10-27 criteria provided, single submitter clinical testing The c.407C>T (p.T136M) alteration is located in exon 5 (coding exon 5) of the CIB1 gene. This alteration results from a C to T substitution at nucleotide position 407, causing the threonine (T) at amino acid position 136 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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