ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)

gnomAD frequency: 0.00004  dbSNP: rs375163006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839196 SCV002099140 uncertain significance Floating-Harbor syndrome 2021-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542827 SCV003481360 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1871 of the SRCAP protein (p.Arg1871Gln). This variant is present in population databases (rs375163006, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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