ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3687+4A>C

gnomAD frequency: 0.00039  dbSNP: rs7226848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332628 SCV001525007 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546586 SCV003468537 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1030932). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. This variant is present in population databases (rs7226848, gnomAD 0.1%). This sequence change falls in intron 25 of the LAMA1 gene. It does not directly change the encoded amino acid sequence of the LAMA1 protein. It affects a nucleotide within the consensus splice site.
Revvity Omics, Revvity RCV001332628 SCV004235963 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2023-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002546586 SCV005193230 uncertain significance not provided criteria provided, single submitter not provided

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