ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)

dbSNP: rs730880132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002362839 SCV002662646 uncertain significance Cardiovascular phenotype 2021-02-24 criteria provided, single submitter clinical testing The p.F237S variant (also known as c.710T>C), located in coding exon 4 of the LMNA gene, results from a T to C substitution at nucleotide position 710. The phenylalanine at codon 237 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157292 SCV000207024 pathogenic Primary dilated cardiomyopathy 2014-02-20 no assertion criteria provided clinical testing

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