ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)

dbSNP: rs1281896947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680035 SCV000807474 uncertain significance Congenital muscular dystrophy due to LMNA mutation 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with congenital muscular dystrophy, short stature, elbow & knee contractures, failure to thrive, scoliosis, hypoventilation, severe constipation
Mendelics RCV000986431 SCV001135431 likely pathogenic Hutchinson-Gilford syndrome 2019-05-28 criteria provided, single submitter clinical testing

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