ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10238G>A (p.Arg3413His)

gnomAD frequency: 0.00089  dbSNP: rs150860855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896065 SCV001040139 likely benign not provided 2025-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259010 SCV003975690 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.10238G>A (p.R3413H) alteration is located in exon 74 (coding exon 74) of the LAMA5 gene. This alteration results from a G to A substitution at nucleotide position 10238, causing the arginine (R) at amino acid position 3413 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003958042 SCV004767620 likely benign LAMA5-related disorder 2023-04-24 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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