ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu)

gnomAD frequency: 0.00001  dbSNP: rs751389222
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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 RCV001063897 SCV001228764 uncertain significance Nemaline myopathy 10 2024-08-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 476 of the LMOD3 protein (p.Pro476Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LMOD3-related conditions. ClinVar contains an entry for this variant (Variation ID: 858092). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003353142 SCV004071027 uncertain significance Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing The c.1427C>T (p.P476L) alteration is located in exon 2 (coding exon 2) of the LMOD3 gene. This alteration results from a C to T substitution at nucleotide position 1427, causing the proline (P) at amino acid position 476 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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