ClinVar Miner

Submissions for variant NM_007241.4(SNF8):c.304G>A (p.Val102Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003447443 SCV004174814 pathogenic SNF8-associated disease 2023-12-07 criteria provided, single submitter research
Ambry Genetics RCV004364705 SCV004952518 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing The c.304G>A (p.V102I) alteration is located in exon 4 (coding exon 4) of the SNF8 gene. This alteration results from a G to A substitution at nucleotide position 304, causing the valine (V) at amino acid position 102 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV003994560 SCV004812257 pathogenic Neurodevelopmental disorder plus optic atrophy 2024-04-10 no assertion criteria provided literature only

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