ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr)

dbSNP: rs2074872521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247974 SCV001421430 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2019-12-06 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (Invitae). In at least one individual the variant was observed to be de novo. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant, c.3422_3427delinsTCTTCT, is a complex sequence change that results in the deletion of 3 amino acids and insertion of 3 amino acids in the SMARCA4 protein (p.Thr1141_Asn1143delinsIlePheTyr).

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