ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)

gnomAD frequency: 0.00001  dbSNP: rs143556666
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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 RCV001867245 SCV002118579 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1356054). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs143556666, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1575 of the SRCAP protein (p.Pro1575Ser).
Fulgent Genetics, Fulgent Genetics RCV002503389 SCV002804057 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-12-21 criteria provided, single submitter clinical testing

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