ClinVar Miner

Submissions for variant NM_181336.4(LEMD2):c.335C>T (p.Ala112Val)

gnomAD frequency: 0.00004  dbSNP: rs149584596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249314 SCV002518600 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002249314 SCV005609421 uncertain significance not specified 2024-11-12 criteria provided, single submitter clinical testing The c.335C>T (p.A112V) alteration is located in exon 1 (coding exon 1) of the LEMD2 gene. This alteration results from a C to T substitution at nucleotide position 335, causing the alanine (A) at amino acid position 112 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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