ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val)

gnomAD frequency: 0.00009  dbSNP: rs201066079
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884650 SCV001028044 benign not provided 2023-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884650 SCV004150798 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing LAMA5: BP4
Ambry Genetics RCV004028341 SCV004896076 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.6740C>T (p.A2247V) alteration is located in exon 50 (coding exon 50) of the LAMA5 gene. This alteration results from a C to T substitution at nucleotide position 6740, causing the alanine (A) at amino acid position 2247 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000884650 SCV005410106 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing BP4_strong
PreventionGenetics, part of Exact Sciences RCV003910450 SCV004724991 likely benign LAMA5-related disorder 2023-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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