ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu)

gnomAD frequency: 0.00011  dbSNP: rs368577129
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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 RCV002007905 SCV002264730 uncertain significance not provided 2022-02-05 criteria provided, single submitter clinical testing 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 C0"). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs368577129, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2933 of the SRCAP protein (p.Pro2933Leu). 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.
Fulgent Genetics, Fulgent Genetics RCV002492202 SCV002778768 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2022-04-18 criteria provided, single submitter clinical testing

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