Submissions for variant NM_000587.4(C7):c.253del (p.Cys85fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002776477	SCV003035078	pathogenic	not provided	2022-07-19	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with C7-related conditions. This variant is present in population databases (rs769923441, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Cys85Valfs*53) in the C7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C7 are known to be pathogenic (PMID: 9856499, 17407100).
PreventionGenetics, part of Exact Sciences	RCV003395519	SCV004119410	likely pathogenic	C7-related disorder	2023-06-13	criteria provided, single submitter	clinical testing	The C7 c.253delT variant is predicted to result in a frameshift and premature protein termination (p.Cys85Valfs*53). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-40934540-AT-A). Frameshift variants in C7 are expected to be pathogenic. This variant is interpreted as likely pathogenic.