ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.1497del (p.Lys499fs)

dbSNP: rs1558872865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032691 SCV000056454 pathogenic Neuronopathy, distal hereditary motor, type 7A 2012-12-07 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790226 SCV000929618 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003894840 SCV004712964 likely pathogenic SLC5A7-related disorder 2023-11-06 no assertion criteria provided clinical testing The SLC5A7 c.1497delG variant is predicted to result in a frameshift and premature protein termination (p.Lys499Asnfs*13). This variant was reported to segregate with several affected individuals in a large family with hereditary motor neuropathy, type VII (Barwick et al 2012. PubMed ID: 23141292). This variant occurs in the last exon of the SLC5A7 gene and likely escapes nonsense-mediated decay and functional studies indicate a dominant-negative impact (Barwick et al 2012. PubMed ID: 23141292). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Other frameshift variants in the last exon of SLC5A7 have been reported to be pathogenic for autosomal dominant hereditary motor neuropathy (Salter et al. 2018. PubMed ID: 29582019). This variant is interpreted as likely pathogenic.

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