ClinVar Miner

Submissions for variant NM_006513.4(SARS1):c.1196C>T (p.Thr399Met)

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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 RCV004285661 SCV004944093 uncertain significance not specified 2022-04-27 criteria provided, single submitter clinical testing The c.1196C>T (p.T399M) alteration is located in exon 9 (coding exon 9) of the SARS gene. This alteration results from a C to T substitution at nucleotide position 1196, causing the threonine (T) at amino acid position 399 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV003236615 SCV003935019 pathogenic Neurodevelopmental disorder with microcephaly, ataxia, and seizures 2023-06-22 flagged submission literature only

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