Submissions for variant NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs)

gnomAD frequency: 0.00001  dbSNP: rs754361205

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728819	SCV000856435	pathogenic	not provided	2017-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000728819	SCV001819423	pathogenic	not provided	2022-05-20	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000728819	SCV002233176	pathogenic	not provided	2021-12-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe648Alafs*10) in the LAMA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA1 are known to be pathogenic (PMID: 25105227, 26932191). This variant is present in population databases (rs754361205, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593704). For these reasons, this variant has been classified as Pathogenic.