ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2504C>T (p.Ala835Val)

gnomAD frequency: 0.00009  dbSNP: rs368232950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733932 SCV000862037 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV001207788 SCV001379155 likely benign Saldino-Mainzer syndrome 2023-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392573 SCV004118928 uncertain significance IFT140-related condition 2022-12-31 criteria provided, single submitter clinical testing The IFT140 c.2504C>T variant is predicted to result in the amino acid substitution p.Ala835Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of South Asian descent in gnomAD and in this population there are two homozygotes (http://gnomad.broadinstitute.org/variant/16-1576693-G-A). Therefore, we suspect this variant is benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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