Submissions for variant NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del)

dbSNP: rs797046007

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193429	SCV000249032	uncertain significance	not specified	2013-11-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492882	SCV002783348	uncertain significance	Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	2022-02-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517138	SCV003517192	uncertain significance	not provided	2023-10-23	criteria provided, single submitter	clinical testing	This variant, c.7725_7727del, results in the deletion of 1 amino acid(s) of the SRCAP protein (p.Ser2576del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771347898, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 212301). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen	RCV002517138	SCV004139124	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing	SRCAP: PM4:Supporting