ClinVar Miner

Submissions for variant NM_003038.5(SLC1A4):c.542C>T (p.Ser181Phe)

dbSNP: rs772094635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fatma Al Jasmi Lab, United Arab Emirates University RCV002273875 SCV002556316 pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 2022-06-30 no assertion criteria provided clinical testing two male siblings of Pakistani origin were presented at the metabolic clinic with a neurodevelopmental disorder characterized by severe impaired global developmental delay since birth. They were diagnosed with spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM; OMIM 616657) through clinical examination and molecular analyses.

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