ClinVar Miner

Submissions for variant NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)

dbSNP: rs983630296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196770 SCV001367403 uncertain significance Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 2018-10-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PS1,PM2,BP3.
Ambry Genetics RCV003284035 SCV003970159 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.2837C>T (p.S946L) alteration is located in exon 22 (coding exon 21) of the FRMD4A gene. This alteration results from a C to T substitution at nucleotide position 2837, causing the serine (S) at amino acid position 946 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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