ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)

gnomAD frequency: 0.00002  dbSNP: rs778024948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332197 SCV001524439 uncertain significance Jawad syndrome 2019-03-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546539 SCV003533574 uncertain significance Inborn genetic diseases 2021-05-27 criteria provided, single submitter clinical testing The c.2435C>T (p.T812M) alteration is located in exon 17 (coding exon 16) of the RBBP8 gene. This alteration results from a C to T substitution at nucleotide position 2435, causing the threonine (T) at amino acid position 812 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738045 SCV004553790 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 812 of the RBBP8 protein (p.Thr812Met). This variant is present in population databases (rs778024948, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RBBP8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030603). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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