ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.8705del (p.Gln2902fs)

dbSNP: rs2145407506
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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 RCV001890381 SCV002150540 pathogenic not provided 2021-12-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LAMA3-related conditions. This sequence change creates a premature translational stop signal (p.Gln1293Argfs*5) in the LAMA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA3 are known to be pathogenic (PMID: 10366601, 11810295, 12915477, 16473856, 17362460, 22434185, 23869449, 27827380, 28087116).
Fulgent Genetics, Fulgent Genetics RCV005016735 SCV005652391 likely pathogenic Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 2024-06-07 criteria provided, single submitter clinical testing

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