ClinVar Miner

Submissions for variant NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)

gnomAD frequency: 0.00027  dbSNP: rs144127577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733942 SCV000862048 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113876 SCV001271686 likely benign Dermatofibrosis lenticularis disseminata 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000733942 SCV001488582 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535358 SCV003643235 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1330C>G (p.P444A) alteration is located in exon 1 (coding exon 1) of the LEMD3 gene. This alteration results from a C to G substitution at nucleotide position 1330, causing the proline (P) at amino acid position 444 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003965543 SCV004776374 likely benign LEMD3-related condition 2020-01-07 criteria provided, single submitter 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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