ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)

dbSNP: rs780129844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897206 SCV002149093 uncertain significance Holoprosencephaly 3 2022-04-12 criteria provided, single submitter clinical testing This variant, c.1210_1233del, results in the deletion of 8 amino acid(s) of the SHH protein (p.Gly404_Gly411del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780129844, gnomAD 0.01%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is also known as 402_409del. This variant has been observed in individual(s) with clinical features of colobomatous microphthalmia and unaffected family members (PMID: 12503095, 20425842).
OMIM RCV002305632 SCV000029660 pathogenic Microphthalmia, isolated, with coloboma 5 2010-05-01 no assertion criteria provided literature only

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